Phenotypes associated with this allele

• Allele Symbol: Fgfr1^tm3.1Cxd
• Allele Name: targeted mutation 3.1, Chu-Xia Deng
• Allele ID: MGI:2181473
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^tm3.1Cxd/Fgfr1^tm3.1Cxd	involves: 129S6/SvEvTac * Black Swiss	MGI:2181546
cn2	Fgfr1^tm3.1Cxd/Fgfr1^tm3.2Cxd Shh^tm1(EGFP/cre)Cjt/Shh^+	involves: 129S6/SvEvTac	MGI:3607119
cn3	Fgfr1^tm3.1Cxd/Fgfr1^tm3.2Cxd Tg(T-cre)1Lwd/0	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:3607121

Genotype
MGI:2181546

hm1

• Allelic Composition: Fgfr1^tm3.1Cxd/Fgfr1^tm3.1Cxd
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

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

mortality/aging

embryonic lethality, complete penetrance ( J:75137 )

Genotype
MGI:3607119

cn2

• Allelic Composition: Fgfr1^tm3.1Cxd/Fgfr1^tm3.2Cxd; Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
• Genetic Background: involves: 129S6/SvEvTac

limbs/digits/tail

oligodactyly ( J:101736 )

• at E18.5 a single digit (probably digit 3) is absent on autopods of both the fore and hindlimbs

abnormal embryonic autopod plate morphology ( J:101736 )

• at E11.5, limb bud size is normal but only 4 digit condensations are present and the 2 middle condensations are farther apart than normal

Genotype
MGI:3607121

cn3

• Allelic Composition: Fgfr1^tm3.1Cxd/Fgfr1^tm3.2Cxd; Tg(T-cre)1Lwd/0
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:101736 )

• mutants die at birth

embryo

abnormal apical ectodermal ridge morphology ( J:101736 )

• at E10.0, in the forelimb bud the apical ectodermal ridge is wider along the dorsal ventral axis and at E10.5 shorter along the anterior posterior axis

abnormal forelimb bud morphology ( J:101736 )

• at E10 the forelimb bud is shorter along the proximal distal axis, wider along the anterior posterior axis and thicker on the dorsal ventral axis and this differences are increased at E10.5

• at E11.5 individual digit condensations cannot be identified

• the number of cells in the forelimb bud is increased 65% and 31% at E10.0 and E10.5, respectively, but decreased by 26% at E11.5 and cell death is increased starting at E10.5 although still confined to the normal cell death domain

abnormal neural plate morphology ( J:101736 )

• at E9.5 the open neural plate is expanded

abnormal somite size ( J:101736 )

• somite size is irregular

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:101736 )

• at E10.0, in the forelimb bud the apical ectodermal ridge is wider along the dorsal ventral axis and at E10.5 shorter along the anterior posterior axis

abnormal forelimb bud morphology ( J:101736 )

• at E10 the forelimb bud is shorter along the proximal distal axis, wider along the anterior posterior axis and thicker on the dorsal ventral axis and this differences are increased at E10.5

• at E11.5 individual digit condensations cannot be identified

• the number of cells in the forelimb bud is increased 65% and 31% at E10.0 and E10.5, respectively, but decreased by 26% at E11.5 and cell death is increased starting at E10.5 although still confined to the normal cell death domain

forelimb oligodactyly ( J:101736 )

• the forelimb autopod has only 3 digits 1 with 3 phalanges and 2 with 2 phalanges

abnormal forelimb stylopod morphology ( J:101736 )

• at E17.5, the stylopod is shortened by about 15%

abnormal forelimb zeugopod morphology ( J:101736 )

• at E17.5, the zeugopod is reduced by about 12% and often fused at the distal end

abnormal hindlimb morphology ( J:101736 )

• the hindlimb is more severely affected than the forelimb

nervous system

abnormal neural plate morphology ( J:101736 )

• at E9.5 the open neural plate is expanded

skeleton

abnormal axial skeleton morphology ( J:101736 )

abnormal cartilage development ( J:101736 )

• at E17.5 the initial cartilage condensations in the forelimb are reduced in number and size