Phenotypes associated with this allele

• Allele Symbol: Ptk7^{Gt(Betageo)1Matl}
• Allele Name: gene trap 1, Marc Tessier-Lavigne
• Allele ID: MGI:3046905
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptk7^Gt(Betageo)1Matl/Ptk7^Gt(Betageo)1Matl	involves: 129P2/Ola	MGI:3047812
cx2	Vangl2^Lp/Vangl2^+ Ptk7^Gt(Betageo)1Matl/Ptk7^+	involves: 129P2/Ola * C57BL/6 * LPT/LeJ	MGI:3047813

Genotype
MGI:3047812

hm1

• 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

Genotype
MGI:3047813

cx2

• Allelic Composition: Vangl2^Lp/Vangl2⁺; Ptk7^{Gt(Betageo)1Matl}/Ptk7⁺
• Genetic Background: involves: 129P2/Ola * C57BL/6 * LPT/LeJ

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:91298 )

N • hair cell stereociliary bundle morphology is mostly unaffected

nervous system

spina bifida ( J:91298 )

• spina bifida is seen in 94% of double heterozygotes

embryo

spina bifida ( J:91298 )

• spina bifida is seen in 94% of double heterozygotes