Phenotypes Associated with This Genotype

Genotype
MGI:3702995

• Allelic Composition: Fgfr1^tm2Jrt/Fgfr1^tm2Jrt
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

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

mortality/aging

neonatal lethality, complete penetrance ( J:78879 , J:81179 )

• homozygotes die within 24 hrs after birth (J:78879)

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:81179 )

• variably affected

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• the gonial bone is reduced or absent

absent middle ear ossicles ( J:81179 )

• variably affected

absent gonial bone ( J:81179 )

• the gonial bone is reduced or absent

small ears ( J:81179 )

• reduction in the size of the pinna

abnormal cochlear sensory epithelium morphology ( J:78879 )

• at birth, the three rows of OHCs that normally extend through the cochlear duct are mildly disrupted

• in contrast, the vestibular sensory epithelium remains unchanged

abnormal organ of Corti morphology ( J:78879 )

• at birth, homozygotes show a mild disruption of the organ of Corti

decreased cochlear outer hair cell number ( J:78879 )

• at birth, the third OHC row is absent throughout the length of the cochlear duct

absent tympanic ring ( J:81179 )

• reduced or absent

decreased tympanic ring size ( J:81179 )

• reduced or absent

nervous system

abnormal neural crest cell morphology ( J:81179 )

• neural crest cells that accumulate proximal to the second branchial arch display increased apoptosis

• however, no abundant cell death occurs in the second arch

decreased cochlear outer hair cell number ( J:78879 )

• at birth, the third OHC row is absent throughout the length of the cochlear duct

craniofacial

abnormal styloid process morphology ( J:81179 )

• in all cases, the proximal styloid process is absent

abnormal alisphenoid bone morphology ( J:81179 )

• posterior part is malformed

abnormal pterygoid bone morphology ( J:81179 )

• flattened in 80% of mice, correlates with presence of a cleft palate

abnormal retrotympanic process morphology ( J:81179 )

• malformation of the retrotympanic process

abnormal hyoid bone lesser horn morphology ( J:81179 )

• lesser horns point laterally in 80% of mice, correlates with presence of a cleft palate

abnormal middle ear ossicle morphology ( J:81179 )

• variably affected

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• the gonial bone is reduced or absent

absent middle ear ossicles ( J:81179 )

• variably affected

absent gonial bone ( J:81179 )

• the gonial bone is reduced or absent

abnormal secondary palate development ( J:81179 )

• open palatine shelf in 80% of mice

abnormal second pharyngeal arch morphology ( J:81179 )

• proximally reduced in size

• at E10.5, the second arch is barely detectable with the distal portion often present but not connected to the proximal portion

• however, the first and third arches appear relatively normal

cleft palate ( J:81179 )

• open palatine shelf in 80% of mice

failure of palatal shelf elevation ( J:81179 )

• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5

abnormal tongue position ( J:81179 )

• the tongue remains between the palatal shelves at E16.5

small ears ( J:81179 )

• reduction in the size of the pinna

digestive/alimentary system

abnormal secondary palate development ( J:81179 )

• open palatine shelf in 80% of mice

cleft palate ( J:81179 )

• open palatine shelf in 80% of mice

failure of palatal shelf elevation ( J:81179 )

• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5

abnormal tongue position ( J:81179 )

• the tongue remains between the palatal shelves at E16.5

embryo

abnormal neural crest cell migration ( J:81179 )

• neural crest cells accumulate proximal to the second branchial arch but fail to enter

abnormal second pharyngeal arch morphology ( J:81179 )

• proximally reduced in size

• at E10.5, the second arch is barely detectable with the distal portion often present but not connected to the proximal portion

• however, the first and third arches appear relatively normal

abnormal neural crest cell morphology ( J:81179 )

• neural crest cells that accumulate proximal to the second branchial arch display increased apoptosis

• however, no abundant cell death occurs in the second arch

skeleton

abnormal styloid process morphology ( J:81179 )

• in all cases, the proximal styloid process is absent

abnormal alisphenoid bone morphology ( J:81179 )

• posterior part is malformed

abnormal pterygoid bone morphology ( J:81179 )

• flattened in 80% of mice, correlates with presence of a cleft palate

abnormal retrotympanic process morphology ( J:81179 )

• malformation of the retrotympanic process

abnormal hyoid bone lesser horn morphology ( J:81179 )

• lesser horns point laterally in 80% of mice, correlates with presence of a cleft palate

abnormal middle ear ossicle morphology ( J:81179 )

• variably affected

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• the gonial bone is reduced or absent

absent middle ear ossicles ( J:81179 )

• variably affected

absent gonial bone ( J:81179 )

• the gonial bone is reduced or absent

cellular

abnormal neural crest cell migration ( J:81179 )

• neural crest cells accumulate proximal to the second branchial arch but fail to enter

growth/size/body

abnormal secondary palate development ( J:81179 )

• open palatine shelf in 80% of mice

cleft palate ( J:81179 )

• open palatine shelf in 80% of mice

failure of palatal shelf elevation ( J:81179 )

• cleft palate may have resulted from a block in palatal shelf elevation caused by the tongue, which in histological sections was still observed in between the palatal shelves at E16.5

abnormal tongue position ( J:81179 )

• the tongue remains between the palatal shelves at E16.5

small ears ( J:81179 )

• reduction in the size of the pinna