Phenotypes associated with this allele

• Allele Symbol: Vangl2^tm1.2Mdea
• Allele Name: targeted mutation 1.2, Michael R Deans
• Allele ID: MGI:5430219
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea	A.129S6(Cg)-Vangl2^tm1.2Mdea	MGI:5436056
hm2	Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea	B6NCrl.129S6(Cg)-Vangl2^tm1.2Mdea	MGI:5430223
hm3	Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea	FVBCrl.129S6(Cg)-Vangl2^tm1.2Mdea	MGI:5436055
ht4	Vangl2^Lp/Vangl2^tm1.2Mdea	involves: 129S/Sv * C57BL/6 * FVB/N * LPT/LeJ * SJL	MGI:5430222
cn5	Tg(Pax2-cre)1Akg/0 Vangl2^tm1.2Mdea/Vangl2^tm2.1Mdea	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5552006

Genotype
MGI:5436056

hm1

• Allelic Composition: Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea
• Genetic Background: A.129S6(Cg)-Vangl2^tm1.2Mdea

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

limbs/digits/tail

limbs/digits/tail phenotype ( J:185311 )

N • Background Sensitivity: unlike mice on a congenic C57BL/6 background, mice exhibit normal tails

Genotype
MGI:5430223

hm2

• Allelic Composition: Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea
• Genetic Background: B6NCrl.129S6(Cg)-Vangl2^tm1.2Mdea

Neural tube defects in Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea mice

nervous system

spina bifida ( J:185311 )

• in 6 of 23 mice

craniorachischisis ( J:185311 )

• in most mice

abnormal cochlear hair cell morphology ( J:185311 )

• Background Sensitivity: mice exhibit a disruption in the planar polarity of auditory hair cells compared with wild-type mice

abnormal orientation of outer hair cell stereociliary bundles ( J:185311 )

• along the length of the cochlea

abnormal cochlear inner hair cell morphology ( J:185311 )

• mis-orientation with less mature apical positions

abnormal vestibular hair cell morphology ( J:185311 )

• misoriented in field 2 of the utricles

• however, cells are normal in field 1 and 3

vision/eye

eyelids open at birth ( J:185311 )

• some mice exhibit incomplete or failed eyelid closure

limbs/digits/tail

kinked tail ( J:185311 )

• Background Sensitivity: tail loops or kinks in 11 of 99 mice on a congenic C57BL/6 background unlike mice on congenic A/J or FVB/NCrl backgrounds

embryo

spina bifida ( J:185311 )

• in 6 of 23 mice

craniorachischisis ( J:185311 )

• in most mice

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:185311 )

• Background Sensitivity: mice exhibit a disruption in the planar polarity of auditory hair cells compared with wild-type mice

abnormal orientation of outer hair cell stereociliary bundles ( J:185311 )

• along the length of the cochlea

abnormal cochlear inner hair cell morphology ( J:185311 )

• mis-orientation with less mature apical positions

abnormal vestibular hair cell morphology ( J:185311 )

• misoriented in field 2 of the utricles

• however, cells are normal in field 1 and 3

Genotype
MGI:5436055

hm3

• Allelic Composition: Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea
• Genetic Background: FVBCrl.129S6(Cg)-Vangl2^tm1.2Mdea

limbs/digits/tail

limbs/digits/tail phenotype ( J:185311 )

N • Background Sensitivity: unlike mice on a congenic C57BL/6 background, mice exhibit normal tails

Genotype
MGI:5430222

ht4

• Allelic Composition: Vangl2^Lp/Vangl2^tm1.2Mdea
• Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N * LPT/LeJ * SJL

Vestibular hair cell planar polarity defects in Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea and Vangl2^tm1.2Mdea/Vangl2^Lp mice

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:185311 )

• more numerous and disorganized cells compared with Vangl2^tm1.2Mdea homozygotes

abnormal cochlear inner hair cell morphology ( J:185311 )

• reverse orientation

abnormal cochlear outer hair cell morphology ( J:185311 )

• abnormal orientation in the mid to last rows

increased cochlear outer hair cell number ( J:185311 )

• extra rows

abnormal vestibular hair cell morphology ( J:185311 )

• more numerous and disorganized cells in more fields compared with Vangl2^tm1.2Mdea homozygotes

nervous system

abnormal cochlear hair cell morphology ( J:185311 )

• more numerous and disorganized cells compared with Vangl2^tm1.2Mdea homozygotes

abnormal cochlear inner hair cell morphology ( J:185311 )

• reverse orientation

abnormal cochlear outer hair cell morphology ( J:185311 )

• abnormal orientation in the mid to last rows

increased cochlear outer hair cell number ( J:185311 )

• extra rows

abnormal vestibular hair cell morphology ( J:185311 )

• more numerous and disorganized cells in more fields compared with Vangl2^tm1.2Mdea homozygotes

Genotype
MGI:5552006

cn5

• Allelic Composition: Tg(Pax2-cre)1Akg/0; Vangl2^tm1.2Mdea/Vangl2^tm2.1Mdea
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:201321 )

N • cochlear length and number of turns are normal

abnormal orientation of inner hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal orientation of outer hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal Deiters cell morphology ( J:201321 )

• shifted out of the second and third outer hair cell rows and not centrally positioned between the hair cell lateral edges

abnormal pillar cell morphology ( J:201321 )

• at P10 and P12, more pronounced in the apical turn

• more compact and incorrectly positioned compared with control mice

abnormal auditory brainstem response ( J:201321 )

• reduced ABR amplitude

• however, the overall shape of the waveform is normal

increased or absent threshold for auditory brainstem response ( J:201321 )

• mild

abnormal distortion product otoacoustic emission ( J:201321 )

• decreased amplitude of the distortion product

nervous system

abnormal orientation of inner hair cell stereociliary bundles ( J:201321 )

• misorientated

abnormal orientation of outer hair cell stereociliary bundles ( J:201321 )

• misorientated