Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Vangl2Lp Name: VANGL planar cell polarity 2; loop tail MGI ID: MGI:1857642 Synonyms: looptail, Lp, lpt, LtapLp, Vangl2S464N Gene: Vangl2  Location: Chr1:171828527-171856011 bp, - strand  Genetic Position: Chr1, 79.54 cM Alliance: Vangl2Lp page

Vangl2Lp/+ Show the 7 phenotype image(s) involving this allele.

Strain of Origin:

A

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	446 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	44 anatomical structure(s)

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

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:	149 reference(s)