Sh2d1a^tm1Lyin
Targeted Allele Detail

Summary

• Symbol: Sh2d1a^tm1Lyin
• Name: SH2 domain containing 1A; targeted mutation 1, Luo Yin
• MGI ID: MGI:3575311
• Synonyms: sap^-, Sh2d1a^-
• Gene: Sh2d1a Location: ChrX:41591442-41610974 bp, + strand Genetic Position: ChrX, 23.2 cM, cytoband A5
• Alliance: Sh2d1a^tm1Lyin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:97346
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance gene replaced a sequence consisting of 606 bp of intron 1 and 25 bp of exon 2. RT-PCR and sequencing showed that the resulting transcript skipped exon 2, and therefore contained a 64 bp frame-shift deletion. Western blot demonstrated the lack of protein in mutant thymocytes. (J:97346)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sh2d1a Mutation: 11 strains or lines available

References

• Original: J:97346 Yin L, et al., Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia. J Med Virol. 2003 Nov;71(3):446-55
• All: 13 reference(s)