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| Nomenclature |
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Symbol:
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Sh3pxd2bnee
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Name:
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SH3 and PX domains 2B;
nose eyes ear
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MGI ID: |
MGI:3689328 |
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Gene:
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Sh3pxd2b
Location:
Chr11:32347820-32428173 bp, + strand
Genetic Position: Chr11,
18.89 cM
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Mutation origin |
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Strain of Origin:
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B10.A-H2h4/(4R)SgDvEgJ
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A spontaneous mutation removes the A nucleotide at position 1303 (130delA). 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
2 reference(s)
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