Vangl2^Lp
Spontaneous Allele Detail

Summary

• Symbol: Vangl2^Lp
• Name: VANGL planar cell polarity 2; loop tail
• MGI ID: MGI:1857642
• Synonyms: looptail, Lp, lpt, Ltap^Lp, Vangl2^S464N
• Gene: Vangl2 Location: Chr1:171828527-171856011 bp, - strand Genetic Position: Chr1, 79.54 cM
• Alliance: Vangl2^Lp page

Vangl2^Lp/+

Show the 7 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: A

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation in the loop tail mouse is a transition point mutation that alters a G to an A at coding nucleotide 1391 (c.1391G>A). This is predicted to alter serine 464 to asparagine (p.S464N) in the encoded protein. Western blot analysis indicates an approximate 80% reduction in protein expression in homozygotes and downward shift in molecular mass that is emulated by dephosphorylation of the wild-type protein. (J:52606, J:70272, J:211696, J:216413)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	449 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	44 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Vangl2 Mutation: 34 strains or lines available

References

• Original: J:13059 Strong LC, et al., Hereditary loop-tail in the house mouse accompanied by imperforate vagina and craniorachischisis when homozygous. J Hered. 1949;40(12):329-334
• All: 152 reference(s)