Phenotypes Associated with This Genotype

Genotype
MGI:3778824

• Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * LPT/LeJ

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

Vangl1^Gt(XL802)Byg/Vangl1⁺ Vangl2^Lp/Vangl2⁺ and Vangl2^Lp/Vangl2^Lp embryos exhibit aberrant right subclavian artery

mortality/aging

perinatal lethality, incomplete penetrance ( J:132697 )

• fewer than expected double heterozygotes are found at weaning (20% rather than the expected 50%) given the presence of craniorachischisis late embryonic lethality is probably the cause of the distorted ratio

nervous system

craniorachischisis ( J:132697 )

• seen in over 60% of double heterozygotes at E13.5 - E18.5

• phenotype is as severe as in mice homozygous for Vangl2^Lp alone

• no obvious neural tube defects are seen in surviving mice

abnormal cochlear hair cell stereociliary bundle morphology ( J:132697 )

• profoundly distorted

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 20% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:132697 )

• some bundles in all 3 layers are misoriented especially at the apical turn (over 50% of bundles in OHC1, 65% in OHC2, over 80% in OHC3)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees

cardiovascular system

cardiovascular system phenotype ( J:132697 )

N • unlike mice homozygous for Vangl2^Lp alone, no outflow tract abnormalities are detected in double heterozygotes

retroesophageal right subclavian artery ( J:132697 )

• at E14.5, the right subclavian artery is positioned dorsal to the esophagus

hearing/vestibular/ear

abnormal cochlea morphology ( J:132697 )

• reduced in size at E18.5 in mice displaying craniorachischisis

abnormal cochlear hair cell stereociliary bundle morphology ( J:132697 )

• profoundly distorted

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 20% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:132697 )

• some bundles in all 3 layers are misoriented especially at the apical turn (over 50% of bundles in OHC1, 65% in OHC2, over 80% in OHC3)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees

limbs/digits/tail

curly tail ( J:132697 )

embryo

craniorachischisis ( J:132697 )

• seen in over 60% of double heterozygotes at E13.5 - E18.5

• phenotype is as severe as in mice homozygous for Vangl2^Lp alone

• no obvious neural tube defects are seen in surviving mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:132697