Phenotypes Associated with This Genotype

Genotype
MGI:3047812

• Allelic Composition: Ptk7^{Gt(Betageo)1Matl}/Ptk7^{Gt(Betageo)1Matl}
• Genetic Background: involves: 129P2/Ola

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

mortality/aging

perinatal lethality, complete penetrance ( J:91298 )

• homozygotes die perinatally

embryo

enlarged floor plate ( J:91298 )

• the floor plate is wider than normal

craniorachischisis ( J:91298 )

• the neural tube fails to close from the midbrain-hindbrain boundary to the base of the spine

abnormal somite shape ( J:91298 )

• the somites are wider with shorter spacing compared to wild-type mice

hearing/vestibular/ear

abnormal outer hair cell kinocilium location or orientation ( J:91298 )

• at E16.5 kinocilia in the third row of outer hair cells are positioned radomly rather than having the normal abneural orientation

increased cochlear outer hair cell number ( J:91298 )

• an abnormal fourth row of outer hair cells

abnormal orientation of outer hair cell stereociliary bundles ( J:91298 )

• at E18.5 in the basal and middle turns stereociliary bundle morphology is disrupted in the outer hair cells with the most pronounced effect in the third row where some bundles are rotated 180 degrees

• at E18.5 in the apical turn stereociliary bundles are misaligned in the both outer hair cells

abnormal cochlear inner hair cell morphology ( J:91298 )

increased cochlear inner hair cell number ( J:91298 )

• extra inner hair cells are seen

abnormal orientation of inner hair cell stereociliary bundles ( J:91298 )

• at E18.5 in the apical turn stereociliary bundles are misaligned in the inner hair cells

limbs/digits/tail

polydactyly ( J:91298 )

• polydactyly on the anterior side of the hindlimb is seen

renal/urinary system

small kidney ( J:91298 )

• mutant kidneys are smaller and rounder than normal

nervous system

abnormal outer hair cell kinocilium location or orientation ( J:91298 )

• at E16.5 kinocilia in the third row of outer hair cells are positioned radomly rather than having the normal abneural orientation

enlarged floor plate ( J:91298 )

• the floor plate is wider than normal

craniorachischisis ( J:91298 )

• the neural tube fails to close from the midbrain-hindbrain boundary to the base of the spine

increased cochlear outer hair cell number ( J:91298 )

• an abnormal fourth row of outer hair cells

abnormal orientation of outer hair cell stereociliary bundles ( J:91298 )

• at E18.5 in the basal and middle turns stereociliary bundle morphology is disrupted in the outer hair cells with the most pronounced effect in the third row where some bundles are rotated 180 degrees

• at E18.5 in the apical turn stereociliary bundles are misaligned in the both outer hair cells

abnormal cochlear inner hair cell morphology ( J:91298 )

increased cochlear inner hair cell number ( J:91298 )

• extra inner hair cells are seen

abnormal orientation of inner hair cell stereociliary bundles ( J:91298 )

• at E18.5 in the apical turn stereociliary bundles are misaligned in the inner hair cells

cellular

abnormal outer hair cell kinocilium location or orientation ( J:91298 )

• at E16.5 kinocilia in the third row of outer hair cells are positioned radomly rather than having the normal abneural orientation