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Vangl2Lp
Spontaneous Allele Detail
Nomenclature
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
Vangl2Lp/+

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 detailsThe 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 443 assay results
In Structures Affected by this Mutation: 46 anatomical structures
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:  33 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;40:329-334
All:  144 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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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory