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PMID:17202188

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Citation

Kuslak, SL, Thielen, JL and Marker, PC (2007) The mouse seminal vesicle shape mutation is allelic with Fgfr2. Development 134:557-65

Abstract

The mouse seminal vesicle shape (svs) mutation is a spontaneous recessive mutation that causes branching morphogenesis defects in the prostate gland and seminal vesicles. Unlike many other mutations that reduce prostatic and/or seminal vesicle branching, the svs mutation dramatically reduces branching without reducing organ growth. Using a positional cloning approach, we identified the svs mutant lesion as a 491 bp insertion in the tenth intron of Fgfr2 that results in changes in the pattern of Fgfr2 alternative splicing. An engineered null allele of Fgfr2 failed to complement the svs mutation proving that a partial loss of FGFR2(IIIb) isoforms causes svs phenotypes. Thus, the svs mutation represents a new type of adult viable Fgfr2 allele that can be used to elucidate receptor function during normal development and in the adult. In the developing seminal vesicles, sustained activation of ERK1/2 was associated with branching morphogenesis and this was absent in svs mutant seminal vesicles. This defect appears to be the immediate downstream effect of partial loss of FGFR2(IIIb) because activation of FGFR2(IIIb) by FGF10 rapidly induced ERK1/2 activation, and inhibition of ERK1/2 activation blocked seminal vesicle branching morphogenesis. Partial loss of FGFR2(IIIb) was also associated with down-regulation of several branching morphogenesis regulators including Shh, Ptch1, Gli1, Gli2, Bmp4, and Bmp7. Together with previous studies, these data suggest that peak levels of FGFR2(IIIb) signaling are required to induce branching and sustain ERK1/2 activation, whereas reduced levels support ductal outgrowth in the prostate gland and seminal vesicles.

Links

PubMed Online version:10.1242/dev.02741

Keywords

Alleles; Alternative Splicing; Animals; Base Sequence; Crosses, Genetic; DNA Primers/genetics; Female; Gene Expression Regulation, Developmental; Male; Mice/genetics; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Mutant Strains; Mice, Transgenic; Molecular Sequence Data; Mutation; Phenotype; Pregnancy; Prostate/abnormalities; Prostate/growth & development; Prostate/metabolism; Receptor, Fibroblast Growth Factor, Type 2/genetics; Receptor, Fibroblast Growth Factor, Type 2/metabolism; Seminal Vesicles/abnormalities; Seminal Vesicles/growth & development; Seminal Vesicles/metabolism; Signal Transduction

Significance

Annotations

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

MOUSE:FGF10

acts_upstream_of_or_within

GO:0070374: positive regulation of ERK1 and ERK2 cascade

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:95523

P

  • regulates_o_occurs_in:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0022612: gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0008543: fibroblast growth factor receptor signaling pathway

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1099809

P

  • occurs_in:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0060688: regulation of morphogenesis of a branching structure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

  • regulates_o_results_in_morphogenesis_of:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0060442: branching involved in prostate gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

  • occurs_in:(EMAPA:32290)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0070374: positive regulation of ERK1 and ERK2 cascade

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1099809

P

  • regulates_o_occurs_in:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGF10

acts_upstream_of_or_within

GO:0070374: positive regulation of ERK1 and ERK2 cascade

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:95523

P

regulates_o_occurs_in:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0070374: positive regulation of ERK1 and ERK2 cascade

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1099809

P

regulates_o_occurs_in:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0060688: regulation of morphogenesis of a branching structure

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

regulates_o_results_in_morphogenesis_of:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0060687: regulation of branching involved in prostate gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

regulates_o_occurs_in:(EMAPA:32290)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0022612: gland morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856633

P

has_participant:(EMAPA:29771)

Seeded From UniProt

complete

MOUSE:FGFR2

acts_upstream_of_or_within

GO:0008543: fibroblast growth factor receptor signaling pathway

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1099809

P

occurs_in:(EMAPA:29771)

Seeded From UniProt

complete


See also

References

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