Phenotypes Associated with This Genotype

Genotype
MGI:5306153

• Allelic Composition: Igf1r^tm2.1Arge/Igf1r^tm2.1Arge
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:178908 )

• die immediately after birth of respiratory failure

hearing/vestibular/ear

abnormal bony labyrinth ( J:178908 )

• noticeably smaller and flattened

• posterior canal is obscured

abnormal cochlea morphology ( J:178908 )

• shortened and slightly widened

abnormal cochlear sensory epithelium morphology ( J:178908 )

• 33% shorter

• decreased proliferation of prosensory cells, by 69% at E12.5 and by 54% at E13.5

abnormal cochlear hair cell development ( J:178908 )

• delayed development of hair cells and support cells

decreased cochlear hair cell number ( J:178908 )

• but hair cell density is normal

abnormal cochlear hair cell stereociliary bundle morphology ( J:178908 )

• mis-oriented

abnormal cochlear inner hair cell morphology ( J:178908 )

• sometimes not aligned properly

• luminal surfaces are smaller

abnormal inner hair cell kinocilium morphology ( J:178908 )

• lateral migration is delayed

decreased cochlear inner hair cell number ( J:178908 )

abnormal cochlear outer hair cell morphology ( J:178908 )

• luminal surfaces are smaller

decreased cochlear outer hair cell number ( J:178908 )

abnormal semicircular canal morphology ( J:178908 )

abnormal lateral semicircular canal morphology ( J:178908 )

• truncated but lateral crista intact

abnormal posterior semicircular canal morphology ( J:178908 )

• hypomorphic but posterior crista are normal

growth/size/body

prenatal growth retardation ( J:178908 )

• severe intrauterine growth deficiency

• embryos are only about 1/2 the size of heterozygotes

respiratory system

respiratory failure ( J:178908 )

• die immediately after birth of respiratory failure

nervous system

abnormal cochlear hair cell development ( J:178908 )

• delayed development of hair cells and support cells

decreased cochlear hair cell number ( J:178908 )

• but hair cell density is normal

decreased cochlear inner hair cell number ( J:178908 )

decreased cochlear outer hair cell number ( J:178908 )

abnormal cochlear hair cell stereociliary bundle morphology ( J:178908 )

• mis-oriented

abnormal cochlear inner hair cell morphology ( J:178908 )

• sometimes not aligned properly

• luminal surfaces are smaller

abnormal inner hair cell kinocilium morphology ( J:178908 )

• lateral migration is delayed

abnormal cochlear outer hair cell morphology ( J:178908 )

• luminal surfaces are smaller

cellular

abnormal inner hair cell kinocilium morphology ( J:178908 )

• lateral migration is delayed

skeleton

abnormal bony labyrinth ( J:178908 )

• noticeably smaller and flattened

• posterior canal is obscured

craniofacial

abnormal bony labyrinth ( J:178908 )

• noticeably smaller and flattened

• posterior canal is obscured