Phenotypes associated with this allele

• Allele Symbol: Fgfr1^tm4Jrt
• Allele Name: targeted mutation 4, Janet Rossant
• Allele ID: MGI:2153347
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr1^tm4Jrt/Fgfr1^tm4Jrt	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2181568
ht2	Fgfr1^tm1Jrt/Fgfr1^tm4Jrt	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:2181569

Genotype
MGI:2181568

hm1

• Allelic Composition: Fgfr1^tm4Jrt/Fgfr1^tm4Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

mortality/aging

neonatal lethality, complete penetrance ( J:49154 )

• some homozygotes survive to term; however, all of these die neonatally

lethality throughout fetal growth and development, incomplete penetrance ( J:49154 )

• a number of homozygotes are found dead or resorbed at E10.5-E16.5

embryonic lethality during organogenesis, incomplete penetrance ( J:49154 )

• a number of homozygotes are found dead or resorbed at E10.5-E16.5

craniofacial

abnormal craniofacial bone morphology ( J:49154 )

• at E10.5-E16.5, homozygotes exhibit craniofacial defects

small second pharyngeal arch ( J:49154 )

• homozygotes display marked reduction in the second branchial arch

limbs/digits/tail

abnormal limb morphology ( J:49154 )

• at E10.5-E16.5, homozygotes display distal limb defects

abnormal carpal bone morphology ( J:49154 )

abnormal phalanx morphology ( J:49154 )

• delays in ossification in distal phalanges

• anterior digits are abnormal

abnormal tarsal bone morphology ( J:49154 )

abnormal forelimb morphology ( J:49154 )

abnormal tail morphology ( J:49154 )

decreased caudal vertebrae number ( J:49154 )

• at P0, homozygotes have 17 caudal vertebrae versus 31 found in wild-type mice

skeleton

abnormal carpal bone morphology ( J:49154 )

abnormal phalanx morphology ( J:49154 )

• delays in ossification in distal phalanges

• anterior digits are abnormal

abnormal tarsal bone morphology ( J:49154 )

abnormal axial skeleton morphology ( J:49154 )

abnormal craniofacial bone morphology ( J:49154 )

• at E10.5-E16.5, homozygotes exhibit craniofacial defects

decreased caudal vertebrae number ( J:49154 )

• at P0, homozygotes have 17 caudal vertebrae versus 31 found in wild-type mice

abnormal sternocostal joint morphology ( J:49154 )

• at P0, 33% of homozygotes show no attachment of the first rib (R1) to the sternum

• at P0, 100% of homozygotes show no attachment of R7 to the sternum

abnormal cervical axis morphology ( J:49154 )

• at P0, 33% homozygotes display C2 malformations

vertebral transformation ( J:49154 )

• homozygotes exhibit vertebral transformations predominantly in the anterior direction

cervical vertebral transformation ( J:49154 )

• at P0, posterior transformations include: C5 to C6 (17%)

lumbar vertebral transformation ( J:49154 )

• at P0, anterior transformations involve L1 to T13 (67%)

sacral vertebral transformation ( J:49154 )

• at P0, anterior transformations include: S1 to L6 (50%); S2 to S1 (33%)

abnormal cartilage development ( J:49154 )

• delays in postaxial cartilage condensation

embryo

small second pharyngeal arch ( J:49154 )

• homozygotes display marked reduction in the second branchial arch

abnormal rostral-caudal axis patterning ( J:49154 )

• anterior-posterior defects in lateral plate mesoderm patterning

Genotype
MGI:2181569

ht2

• Allelic Composition: Fgfr1^tm1Jrt/Fgfr1^tm4Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

prenatal lethality, complete penetrance ( J:49154 )

• no newborns are recovered at P0

limbs/digits/tail

abnormal tail development ( J:49154 )