Vangl2<Lp> Spontaneous Allele Detail MGI Mouse (MGI:1857642)

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:

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

Phenotypes

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

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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