Sh2d1a^rpl
Spontaneous Allele Detail

Summary

• Symbol: Sh2d1a^rpl
• Name: SH2 domain containing 1A; regression of phenotype associated with lpr
• MGI ID: MGI:3761605
• Synonyms: MRL/rpl, MRL^rpl
• Gene: Sh2d1a Location: ChrX:41591442-41610974 bp, + strand Genetic Position: ChrX, 23.2 cM, cytoband A5
• Alliance: Sh2d1a^rpl page

Mutation origin

• Strain of Origin: MRL-Fas^lpr

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: An adenyl nucleotide insertion occurred within the 1st exon of the gene at codon 21, causing a frameshift mutation. Western analysis confirmed there was no expression of the wild-type protein. (J:126261)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cx1	Fas^lpr/Fas^lpr Sh2d1a^rpl/Sh2d1a^rpl	MRL/Mp-Fas^lpr Sh2d1a^rpl

Phenotypes:

Affected Systems	cx1
show or hide all annotated terms Sex:
immune system	√
abnormal immune system physiology	√
increased anti-nuclear antigen antibody level	√

View phenotypes and curated references for all genotypes (concatenated display).

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:126261 Komori H, et al., A signal adaptor SLAM-associated protein regulates spontaneous autoimmunity and Fas-dependent lymphoproliferation in MRL-Faslpr lupus mice. J Immunol. 2006 Jan 1;176(1):395-400
• All: 2 reference(s)