Phenotypes associated with this allele

• Allele Symbol: Fgfr1^tm5.2Sor
• Allele Name: targeted mutation 5.2, Philippe Soriano
• Allele ID: MGI:3620061
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^tm5.2Sor/Fgfr1^tm5.2Sor	129S4/SvJaeSor-Fgfr1^tm5.2Sor	MGI:5882530
hm2	Fgfr1^tm5.2Sor/Fgfr1^tm5.2Sor	involves: 129S4/SvJaeSor * C57BL/6J	MGI:3620076

Genotype
MGI:5882530

hm1

• Allelic Composition: Fgfr1^tm5.2Sor/Fgfr1^tm5.2Sor
• Genetic Background: 129S4/SvJaeSor-Fgfr1^tm5.2Sor

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:226497 )

• homozygotes are present at E4.5 but fail to be recovered at normal Mendelian ratios by E6.5

embryo

abnormal developmental patterning ( J:226497 )

• embryonic fragments recovered at E6.5 and E7.5 show no defined axis or structure

abnormal embryonic epiblast morphology ( J:226497 )

• cultured E3.5 blastocysts and uncultured E4.5 embryos form more epiblast (Nanog+) cells

abnormal primitive endoderm morphology ( J:226497 )

• cultured E3.5 blastocysts and uncultured E4.5 embryos form fewer primitive endoderm (Gata4+) cells

abnormal blastocyst morphology ( J:226497 )

• cultured E3.5 blastocysts contain fewer cells than wild-type controls

• however, in vivo, numbers of cells per embryo are comparable to those of wild-type controls by E4.5

Genotype
MGI:3620076

hm2

• Allelic Composition: Fgfr1^tm5.2Sor/Fgfr1^tm5.2Sor
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:105920 )

• homozygous embryos survive to E11.5

embryo

abnormal developmental patterning ( J:105920 )

• patterning defects are observed in homozygotes

abnormal gastrulation movements ( J:105920 )

• mesodermal migration through the primitive streak is impaired and cells accumulate in the streak

abnormal mesoderm development ( J:105920 )

• mesodermal migration defects are observed

• the paraxial mesoderm is reduced and the axial mesoderm is expanded as a result of the gastrulation movement defects

caudal body truncation ( J:105920 )

• posterior truncations

embryonic growth retardation ( J:105920 )

• embryos are developmentally arrested prior to E9.5

increased axial mesoderm size ( J:105920 )

• the axial mesoderm is expanded

decreased paraxial mesoderm size ( J:105920 )

• the paraxial mesoderm is reduced

craniorachischisis ( J:105920 )

failure of somite differentiation ( J:105920 )

• somite formation fails due to paraxial mesoderm disorganization

nervous system

craniorachischisis ( J:105920 )

cardiovascular system

failure of heart looping ( J:105920 )

• embryos have disrupted heart looping

enlarged heart ( J:105920 )

• embryos have enlarged hearts

growth/size/body

enlarged heart ( J:105920 )

• embryos have enlarged hearts

embryonic growth retardation ( J:105920 )

• embryos are developmentally arrested prior to E9.5