Phenotypes associated with this allele

• Allele Symbol: Vangl2^tm1.2Yy
• Allele Name: targeted mutation 1.2, Yingzi Yang
• Allele ID: MGI:4819590
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vangl2^tm1.2Yy/Vangl2^tm1.2Yy	involves: C57BL/6 * CBA	MGI:4819598
cx2	Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg Vangl2^tm1.2Yy/Vangl2^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4819600
cx3	Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg Vangl2^tm1.2Yy/Vangl2^tm1.2Yy	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4819601

Genotype
MGI:4819598

hm1

• Allelic Composition: Vangl2^tm1.2Yy/Vangl2^tm1.2Yy
• Genetic Background: involves: C57BL/6 * CBA

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

nervous system

craniorachischisis ( J:162640 )

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

embryo

craniorachischisis ( J:162640 )

hearing/vestibular/ear

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

Genotype
MGI:4819600

cx2

• Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg; Vangl2^tm1.2Yy/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

nervous system

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells in rows 3 and 2 are misoriented compared to in wild-type mice

limbs/digits/tail

long tail ( J:162640 )

• compared with Vangl2^Lp/Vangl2^Lp Vangl2^tm1.2Yy/Vangl2⁺

hearing/vestibular/ear

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells in rows 3 and 2 are misoriented compared to in wild-type mice

Genotype
MGI:4819601

cx3

• Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg; Vangl2^tm1.2Yy/Vangl2^tm1.2Yy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

embryo

abnormal embryonic cilium location or orientation ( J:162640 )

• positioning of the posterior notochord (node) cilia is randomized unlike in wild-type mice

• in the posterior notochord (node), cell density is slightly reduced and cilia localization is altered compared to in wild-type mice

abnormal motile primary cilium physiology ( J:162640 )

• nodal flow produces swirling vortices and time to cross the posterior notochord (node) is lengthened compared to in wild-type mice

• unilateral nodal flow in the posterior notochord (node) is compromised compared to in wild-type mice

• however, cilia in the posterior notochord beat at the same speed and direction as in wild-type mice

abnormal embryo turning ( J:162640 )

• embryos fail to turn unlike wild-type mice

abnormal notochord morphology ( J:162640 )

• cell density and the number of posteriorly localized basal bodies in the posterior notochord (node) are decreased compared to in wild-type mice

growth/size/body

abnormal prenatal body size ( J:162640 )

• embryos exhibit a reduction in length to width ratio compared with wild-type mice

heterotaxia ( J:162640 )

• mice exhibit left-right asymmetry defects compared with wild-type mice

• however, nodal cilia appear normal

left pulmonary isomerism ( J:162640 )

• mild

nervous system

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

cardiovascular system

failure of heart looping ( J:162640 )

respiratory system

left pulmonary isomerism ( J:162640 )

• mild

hearing/vestibular/ear

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

cellular

abnormal embryonic cilium location or orientation ( J:162640 )

• positioning of the posterior notochord (node) cilia is randomized unlike in wild-type mice

• in the posterior notochord (node), cell density is slightly reduced and cilia localization is altered compared to in wild-type mice

abnormal motile primary cilium physiology ( J:162640 )

• nodal flow produces swirling vortices and time to cross the posterior notochord (node) is lengthened compared to in wild-type mice

• unilateral nodal flow in the posterior notochord (node) is compromised compared to in wild-type mice

• however, cilia in the posterior notochord beat at the same speed and direction as in wild-type mice