Phenotypes Associated with This Genotype

Genotype
MGI:2181563

• Allelic Composition: Fgfr1^tm2Jrt/Fgfr1^tm2Jrt
• 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 )

• homozygotes die neonatally

embryo

small second pharyngeal arch ( J:49154 )

• homozygotes display a significant reduction of the second branchial arch, leading to craniofacial defects

abnormal rostral-caudal axis patterning ( J:49154 )

• at E9.5, homozygotes show abnormal development of the A-P axis

caudal body truncation ( J:49154 )

• at E9.5, homozygotes display posterior truncations

craniofacial

abnormal craniofacial bone morphology ( J:49154 )

• at E9.5, homozygotes show defects in craniofacial patterning

small second pharyngeal arch ( J:49154 )

• homozygotes display a significant reduction of the second branchial arch, leading to craniofacial defects

skeleton

abnormal carpal bone morphology ( J:49154 )

abnormal phalanx morphology ( J:49154 )

• at P0, homozygotes show delayed ossification of distal phalanges

abnormal tarsal bone morphology ( J:49154 )

abnormal axial skeleton morphology ( J:49154 )

abnormal craniofacial bone morphology ( J:49154 )

• at E9.5, homozygotes show defects in craniofacial patterning

decreased caudal vertebrae number ( J:49154 )

• at P0, homozygotes have 25 caudal vertebrae versus 31 found in wild-type mice

abnormal sternocostal joint morphology ( J:49154 )

• at P0, 32% of homozygotes show no attachment of the first rib (R1) to the sternum

• at P0, 59% of homozygotes show no attachment of R7 to the sternum

increased rib number ( J:49154 )

• at the lumbrosacral level, P0 homozygotes frequently have extra ribs on L1

rib fusion ( J:49154 )

• at P0, 47% of homozygotes display rib fusions

abnormal cervical axis morphology ( J:49154 )

• at P0, 32% of homozygotes display C2 malformations

vertebral transformation ( J:49154 )

• at E9.5, homozygotes display vertebral transformations predominantly to anterior direction

thoracic vertebral transformation ( J:49154 )

• at P0, a posterior transformation of T7 to T8 (not attaching the sternum) is common

cervical vertebral transformation ( J:49154 )

• at P0, anterior transformations include: C1 to occipital (12%); C2 to C1 (9%); C7 to C6 (9%)

• at P0, posterior transformations include: C5 to C6 (12%); C7 to T1 (9%)

lumbar vertebral transformation ( J:49154 )

• at P0, anterior transformations include: L1 to T13 (41%)

sacral vertebral transformation ( J:49154 )

• at P0, anterior transformations include: S1 to L6 (9%); S2 to S1 (12%)

limbs/digits/tail

abnormal limb morphology ( J:49154 )

• at E9.5, homozygotes display distal limb defects

abnormal carpal bone morphology ( J:49154 )

abnormal digit morphology ( J:49154 )

• at P0, homozygotes display loss of anterior digits, syn- and oligodactyly, and postaxial cartilage condensations

abnormal phalanx morphology ( J:49154 )

• at P0, homozygotes show delayed ossification of distal phalanges

oligodactyly ( J:49154 )

syndactyly ( J:49154 )

abnormal tarsal bone morphology ( J:49154 )

decreased caudal vertebrae number ( J:49154 )

• at P0, homozygotes have 25 caudal vertebrae versus 31 found in wild-type mice

abnormal tail development ( J:49154 )