Phenotypes associated with this allele

• Allele Symbol: Fgfr1^tm10.1Sor
• Allele Name: targeted mutation 10.1, Philippe Soriano
• Allele ID: MGI:5828624
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^tm10.1Sor/Fgfr1^tm10.1Sor	129S4/SvJaeSor-Fgfr1^tm10.1Sor	MGI:5882540
cn2	Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm10.1Sor H2az2^Tg(Wnt1-cre)11Rth	MGI:5882546
cn3	Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor Stat3^tm2Aki/Stat3^tm2Aki H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor	MGI:5882547

Genotype
MGI:5882540

hm1

• Allelic Composition: Fgfr1^tm10.1Sor/Fgfr1^tm10.1Sor
• Genetic Background: 129S4/SvJaeSor-Fgfr1^tm10.1Sor

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

mortality/aging

embryonic lethality, complete penetrance ( J:226497 )

• homozygotes die between E10.5 and E11.5

growth/size/body

embryonic growth retardation ( J:226497 )

• E10.5 embryos appear developmentally retarded

embryo

abnormal neural crest cell migration ( J:226497 )

• neural crest cells fail to enter the second pharyngeal arch

absent second pharyngeal arch ( J:226497 )

• second pharyngeal arches are completely absent at E9.5

abnormal embryo development ( J:226497 )

• homozygotes exhibit multiple defects in embryonic development

• however, yolk sac vasculature, chorioallantoic fusion, and mesoderm formation appear normal

caudal body truncation ( J:226497 )

• homozygotes exhibit posterior truncations

embryonic growth arrest ( J:226497 )

• homozygotes fail to develop past E9.5

embryonic growth retardation ( J:226497 )

• E10.5 embryos appear developmentally retarded

abnormal somite development ( J:226497 )

• although somites are formed at E9.5, they appear small and irregular

decreased somite size ( J:226497 )

craniofacial

absent second pharyngeal arch ( J:226497 )

• second pharyngeal arches are completely absent at E9.5

integument

bleb ( J:226497 )

• E9.5 homozygotes display subepidermal blebs

cellular

abnormal neural crest cell migration ( J:226497 )

• neural crest cells fail to enter the second pharyngeal arch

Genotype
MGI:5882546

cn2

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: 129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm10.1Sor H2az2^{Tg(Wnt1-cre)11Rth}

craniofacial

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

growth/size/body

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

digestive/alimentary system

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

Genotype
MGI:5882547

cn3

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor; Stat3^tm2Aki/Stat3^tm2Aki; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor

craniofacial

craniofacial phenotype ( J:226497 )

N • none of the 4 mice examined exhibit cleft palate, likely due to the low penetrance of cleft palate found in Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor mice (2 of 13)