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Sh3pxd2bnee
Spontaneous Allele Detail
Nomenclature
Symbol: Sh3pxd2bnee
Name: SH3 and PX domains 2B; nose eyes ear
MGI ID: MGI:3689328
Gene: Sh3pxd2b  Location: Chr11:32347820-32428173 bp, + strand  Genetic Position: Chr11, 18.89 cM
Abnormal growth, craniofacial, and ocular phenotypes in Sh3pxd2bnee/Sh3pxd2bnee mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  B10.A-H2h4/(4R)SgDvEgJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA spontaneous mutation removes the A nucleotide at position 1220 (c.1220delA) in tyrosine codon 407. This mutation leads to a frame shift altering 37 amino acid before resulting in a premature stop codon and truncation of the protein product to 443 amino acids compared to the full-length 908 amino acids. The truncated protein lacks the fourth SH3 domain. (J:153369)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sh3pxd2b Mutation:  23 strains or lines available
References
Original:  J:153369 Mao M, et al., The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome. 2009 Aug;20(8):462-75
All:  5 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
06/23/2020
MGI 6.15
The Jackson Laboratory