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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Vangl2ska17
skeletal/axial 17
MGI:3038827
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Vangl2ska17/Vangl2ska17 involves: 129S6/SvEvTac * C57BL/6J MGI:4941948
hm2
 		Vangl2ska17/Vangl2ska17 involves: C57BL/6 MGI:3513921
ht3
 		Vangl2Lp/Vangl2ska17 involves: 129S6/SvEvTac * A/J * C57BL/6J MGI:4941949
cx4
 		Vangl1Gt(XL802)Byg/Vangl1+
Vangl2ska17/Vangl2+ 		involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J MGI:4941950


Genotype
MGI:4941948
hm1
Allelic
Composition		 Vangl2ska17/Vangl2ska17
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vangl2ska17 mutation (0 available); any Vangl2 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
curly tail ( J:169664 )
• 47% (30 of 64) of adults have a looped or kinky tail
kinked tail ( J:169664 )
• 47% (30 of 64) of adults have a looped or kinky tail

nervous system
spina bifida ( J:169664 )
• in 12% (6 of 50) of embryos in the lumbosacral region
• however, none of the embryos show craniorachischisis

reproductive system
imperforate hymen ( J:169664 )
• present in 78% (21 of 27) of females
male infertility ( J:169664 )
• 32% (12 of 37) of males appear to be infertile
• infertile males are able to set copulatory plugs and do not have any obvious defects in spermatogenesis

vision/eye
vision/eye phenotype ( J:169664 )
N
• unlike Vangl2Lp homozygotes, eyelid closure is normal

embryo
spina bifida ( J:169664 )
• in 12% (6 of 50) of embryos in the lumbosacral region
• however, none of the embryos show craniorachischisis




Genotype
MGI:3513921
hm2
Allelic
Composition		 Vangl2ska17/Vangl2ska17
Genetic
Background		 involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vangl2ska17 mutation (0 available); any Vangl2 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
limbs/digits/tail
curly tail ( J:89098 )
• described as a looptail




Genotype
MGI:4941949
ht3
Allelic
Composition		 Vangl2Lp/Vangl2ska17
Genetic
Background		 involves: 129S6/SvEvTac * A/J * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vangl2Lp mutation (2 available); any Vangl2 mutation (34 available)
Vangl2ska17 mutation (0 available); any Vangl2 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
spina bifida ( J:169664 )
• in 2 of 13 embryos
craniorachischisis ( J:169664 )
• in 10 of 13 embryos
abnormal orientation of outer hair cell stereociliary bundles ( J:169664 )
• bundle orientation of OHC2 and OHC3 at the apical regions of the organ of Corti is severely affected

vision/eye
failure of eyelid fusion ( J:169664 )
• in 3 of 5 embryos with craniorachischisis

embryo
spina bifida ( J:169664 )
• in 2 of 13 embryos
craniorachischisis ( J:169664 )
• in 10 of 13 embryos

hearing/vestibular/ear
abnormal orientation of outer hair cell stereociliary bundles ( J:169664 )
• bundle orientation of OHC2 and OHC3 at the apical regions of the organ of Corti is severely affected




Genotype
MGI:4941950
cx4
Allelic
Composition		 Vangl1Gt(XL802)Byg/Vangl1+
Vangl2ska17/Vangl2+
Genetic
Background		 involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vangl1Gt(XL802)Byg mutation (1 available); any Vangl1 mutation (85 available)
Vangl2ska17 mutation (0 available); any Vangl2 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:169664 )
• no tail, neural tube or eyelid fusion defects are detected




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Send questions and comments to User Support. 		last database update
07/05/2024
MGI 6.24 		The Jackson Laboratory