Mouse Genome Informatics
cx
    Vangl1Gt(XL802)Byg/Vangl1+
Vangl2Lp/Vangl2+

involves: 129P2/OlaHsd * C57BL/6J * LPT/LeJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype

Vangl1Gt(XL802)Byg/Vangl1+ Vangl2Lp/Vangl2+ and Vangl2Lp/Vangl2Lp embryos exhibit aberrant right subclavian artery

mortality/aging
• 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
• seen in over 60% of double heterozygotes at E13.5 - E18.5
• phenotype is as severe as in mice homozygous for Vangl2Lp alone
• no obvious neural tube defects are seen in surviving mice
• 20% of inner hair cell bundles are misoriented
• 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
N
• unlike mice homozygous for Vangl2Lp alone, no outflow tract abnormalities are detected in double heterozygotes
• at E14.5, the right subclavian artery is positioned dorsal to the esophagus

hearing/vestibular/ear
• reduced in size at E18.5 in mice displaying craniorachischisis
• 20% of inner hair cell bundles are misoriented
• 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

embryogenesis
• seen in over 60% of double heterozygotes at E13.5 - E18.5
• phenotype is as severe as in mice homozygous for Vangl2Lp alone
• no obvious neural tube defects are seen in surviving mice

Mouse Models of Human Disease
OMIM IDRef(s)
Neural Tube Defects, Susceptibility To; NTD 182940 J:132697