Sh3pxd2b^nee
Spontaneous Allele Detail

Summary

• Symbol: Sh3pxd2b^nee
• Name: SH3 and PX domains 2B; nose eyes ear
• MGI ID: MGI:3689328
• Gene: Sh3pxd2b Location: Chr11:32297820-32378173 bp, + strand Genetic Position: Chr11, 18.89 cM
• Alliance: Sh3pxd2b^nee page

Abnormal growth, craniofacial, and ocular phenotypes in Sh3pxd2b^nee/Sh3pxd2b^nee mice

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

Mutation origin

• Strain of Origin: B10.A-H2^h4/(4R)SgDvEgJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	14 anatomical structure(s)

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: 38 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: 6 reference(s)