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PMID:15755804

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Citation

García-García, MJ, Eggenschwiler, JT, Caspary, T, Alcorn, HL, Wyler, MR, Huangfu, D, Rakeman, AS, Lee, JD, Feinberg, EH, Timmer, JR and Anderson, KV (2005) Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc. Natl. Acad. Sci. U.S.A. 102:5913-9

Abstract

Many aspects of the genetic control of mammalian embryogenesis cannot be extrapolated from other animals. Taking a forward genetic approach, we have induced recessive mutations by treatment of mice with ethylnitrosourea and have identified 43 mutations that affect early morphogenesis and patterning, including 38 genes that have not been studied previously. The molecular lesions responsible for 14 mutations were identified, including mutations in nine genes that had not been characterized previously. Some mutations affect vertebrate-specific components of conserved signaling pathways; for example, at least five mutations affect previously uncharacterized regulators of the Sonic hedgehog (Shh) pathway. Approximately half of all of the mutations affect the initial establishment of the body plan, and several of these produce phenotypes that have not been described previously. A large fraction of the genes identified affect cell migration, cellular organization, and cell structure. The findings indicate that phenotype-based genetic screens provide a direct and unbiased method to identify essential regulators of mammalian development.

Links

PubMed PMC1087930 Online version:10.1073/pnas.0501071102

Keywords

Animals; Body Patterning; Chromosome Mapping; Genes, Recessive; Mammals; Mice/embryology; Mice/genetics; Morphogenesis; Mutation; Nervous System/embryology; Species Specificity

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:PTEN

acts_upstream_of_or_within

GO:0007507: heart development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578141

P

  • results_in_development_of:(EMAPA:16105)

Seeded From UniProt

complete

MOUSE:UGDH

acts_upstream_of_or_within

GO:0001702: gastrulation with mouth forming second

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2678264

P

Seeded From UniProt

complete

MOUSE:KIF3A

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3580660

P

Seeded From UniProt

complete

MOUSE:KIF3A

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3580660

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:RAB23

acts_upstream_of_or_within

GO:0021513: spinal cord dorsal/ventral patterning

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137533

P

Seeded From UniProt

complete

MOUSE:RAB23

acts_upstream_of_or_within

GO:0042733: embryonic digit morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137533

P

Seeded From UniProt

complete

MOUSE:SMO

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137553

P

Seeded From UniProt

complete

MOUSE:SMO

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137553

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:OPA1

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578528

P

Seeded From UniProt

complete

MOUSE:TBX6

acts_upstream_of_or_within

GO:0001707: mesoderm formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578143

P

  • results_in_formation_of:(EMAPA:16183)|results_in_formation_of:(EMAPA:16751)

Seeded From UniProt

complete

MOUSE:DISP1

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2448055

P

Seeded From UniProt

complete

MOUSE:DISP1

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2448055

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578144

P

Seeded From UniProt

complete

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578144

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0042733: embryonic digit morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

Seeded From UniProt

complete

MOUSE:AR13B

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578151

P

Seeded From UniProt

complete

MOUSE:AR13B

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578151

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:HECD1

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137552

P

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578529

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0042733: embryonic digit morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578529

P

Seeded From UniProt

complete

MOUSE:IF172

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2682066

P

Seeded From UniProt

complete

MOUSE:IF172

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2682066

P

  • occurs_in:(EMAPA:16525)

Seeded From UniProt

complete

MOUSE:KI20B

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578531

P

Seeded From UniProt

complete

MOUSE:E41L5

acts_upstream_of_or_within

GO:0048339: paraxial mesoderm development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578147

P

  • results_in_development_of:(EMAPA:16171)|results_in_development_of:(EMAPA:16183)

Seeded From UniProt

complete

MOUSE:E41L5

acts_upstream_of_or_within

GO:0048318: axial mesoderm development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578147

P

  • results_in_development_of:(EMAPA:16097)

Seeded From UniProt

complete

MOUSE:PGLT1

acts_upstream_of_or_within

GO:0048339: paraxial mesoderm development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137554

P

  • results_in_development_of:(EMAPA:16171)|results_in_development_of:(EMAPA:16183)

Seeded From UniProt

complete

MOUSE:PGLT1

acts_upstream_of_or_within

GO:0048318: axial mesoderm development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137554

P

  • results_in_development_of:(EMAPA:16097)

Seeded From UniProt

complete

MOUSE:ABI1

acts_upstream_of_or_within

GO:0001756: somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578145

P

Seeded From UniProt

complete

MOUSE:NU133

acts_upstream_of_or_within

GO:0048339: paraxial mesoderm development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578539

P

  • results_in_development_of:(EMAPA:16171)|results_in_development_of:(EMAPA:16183)

Seeded From UniProt

complete

MOUSE:LIAS

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578174

P

Seeded From UniProt

complete

MOUSE:ALG5

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578146

P

Seeded From UniProt

complete

MOUSE:PTEN

acts_upstream_of_or_within

GO:0007507: heart development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578141

P

results_in_development_of:(EMAPA:16105)

Seeded From UniProt

complete

MOUSE:SMO

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137553

P

Seeded From UniProt

complete

MOUSE:SMO

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2137553

P

has_participant:(EMAPA:16039)

Seeded From UniProt

complete

MOUSE:KIF3A

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3580660

P

Seeded From UniProt

complete

MOUSE:KIF3A

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3580660

P

has_participant:(EMAPA:16039)

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0042733: embryonic digit morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578529

P

has_participant:(EMAPA:16405)

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578529

P

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0042733: embryonic digit morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

has_participant:(EMAPA:16405)

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

Seeded From UniProt

complete

MOUSE:IFT88

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3027342

P

has_participant:(EMAPA:16039)

Seeded From UniProt

complete

MOUSE:AR13B

acts_upstream_of_or_within

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578151

P

has_participant:(EMAPA:16039)

Seeded From UniProt

complete

MOUSE:AR13B

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578151

P

Seeded From UniProt

complete

MOUSE:UGDH

acts_upstream_of_or_within

GO:0001702: gastrulation with mouth forming second

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2678264

P

has_participant:(EMAPA:16039)

Seeded From UniProt

complete

MOUSE:ABI1

acts_upstream_of_or_within

GO:0001756: somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578145

P

has_participant:(EMAPA:16172)|has_participant:(EMAPA:16184)

Seeded From UniProt

complete

MOUSE:OPA1

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578528

P

has_participant:(EMAPA:16530)

Seeded From UniProt

complete

See also

References

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