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PMID:20178780

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Citation

Jerome-Majewska, LA, Achkar, T, Luo, L, Lupu, F and Lacy, E (2010) The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta. Dev. Biol. 341:154-66

Abstract

During vesicular transport between the endoplasmic reticulum and the Golgi, members of the TMED/p24 protein family form hetero-oligomeric complexes that facilitate protein-cargo recognition as well as vesicle budding. In addition, they regulate each other's level of expression. Despite analyses of TMED/p24 protein distribution in mammalian cells, yeast, and C. elegans, little is known about the role of this family in vertebrate embryogenesis. We report the presence of a single point mutation in Tmed2/p24beta(1) in a mutant mouse line, 99J, identified in an ENU mutagenesis screen for recessive developmental abnormalities. This mutation does not affect Tmed2/p24beta(1) mRNA levels but results in loss of TMED2/p24beta(1) protein. Prior to death at mid-gestation, 99J homozygous mutant embryos exhibit developmental delay, abnormal rostral-caudal elongation, randomized heart looping, and absence of the labyrinth layer of the placenta. We find that Tmed2/p24beta(1) is normally expressed in tissues showing morphological defects in 99J mutant embryos and that these affected tissues lack the TMED2/p24beta(1) oligomerization partners, TMED7/p24gamma(3) and TMED10/p24delta(1). Our data reveal a requirement for TMED2/p24beta(1) protein in the morphogenesis of the mouse embryo and placenta.

Links

PubMed PMC2892723 Online version:10.1016/j.ydbio.2010.02.019

Keywords

Animals; Embryo, Mammalian/metabolism; Endoplasmic Reticulum/metabolism; Female; Gene Expression Regulation, Developmental; Mice; Mice, Inbred C57BL; Morphogenesis; Mutation; Placenta/metabolism; Pregnancy; Vesicular Transport Proteins/metabolism

Significance

Annotations

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

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001756: somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0010628: positive regulation of gene expression

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

  • has_input:(MGI:MGI:1913926)|has_input:(MGI:MGI:1914761)|has_input:(MGI:MGI:1915831)

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001701: in utero embryonic development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4343479
MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

GO:0060716: labyrinthine layer blood vessel development

ECO:0000315:

P

Fig 2. Absence of the labyrinth layer in the mutant phenotype. More specifically as seen in Fig.2 D-F there is no invagination of the allantois into the chorion, which is necessary for the formation of the labyrinth layer, in the mutants like there is in the wild type.

complete
CACAO 8976

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001756: somitogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

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

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001947: heart looping

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4343479
MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001892: embryonic placenta development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0001843: neural tube closure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

has_participant:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0010628: positive regulation of gene expression

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

has_regulation_target:(MGI:MGI:1913926)|has_regulation_target:(MGI:MGI:1914761)|has_regulation_target:(MGI:MGI:1915831)

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0032525: somite rostral/caudal axis specification

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0035264: multicellular organism growth

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4343479
MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0036342: post-anal tail morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4343479
MGI:MGI:4456438

P

has_participant:(EMAPA:16748)

Seeded From UniProt

complete

MOUSE:TMED2

acts_upstream_of_or_within

GO:0036342: post-anal tail morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4343479
MGI:MGI:4456438

P

Seeded From UniProt

complete

MOUSE:TMED2

involved_in

GO:0001893: maternal placenta development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:TMED2

involved_in

GO:0048598: embryonic morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:TMED2

involved_in

GO:0060716: labyrinthine layer blood vessel development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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