Lrrc8a^tm1.1Geha
Targeted Allele Detail

Summary

• Symbol: Lrrc8a^tm1.1Geha
• Name: leucine rich repeat containing 8A VRAC subunit A; targeted mutation 1.1, Raif S Geha
• MGI ID: MGI:5581436
• Synonyms: Lrrc8a^-
• Gene: Lrrc8a Location: Chr2:30127781-30153802 bp, + strand Genetic Position: Chr2, 21.41 cM
• Alliance: Lrrc8a^tm1.1Geha page

Growth retardation, epidermal hyperkeratosis, thin skeletal muscle bundles, vacuolated renal tubular cells, and absence of ovarian corpora lutea in Lrrc8a^tm1.1Geha/Lrrc8a^tm1.1Geha mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:211308
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

Allele Type: Targeted (Null/knockout) Mutation: Intragenic deletion Mutation details: Exon 3 and part of the following intron were replaced with a floxed neomycin selection cassette which was subsequently removed by cre excision. Immunoblotting of thymocyte lysates and FACS analysis of splenic T and B cells confirmed the absence of protein expression in homozygous mutant mice. (J:211308)

Generation of the Lrrc8a^tm1.1Geha allele

Expression

In Structures Affected by this Mutation:

12 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 Lrrc8a Mutation: 54 strains or lines available

References

• Original: J:211308 Kumar L, et al., Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. J Exp Med. 2014 May 5;211(5):929-42
• All: 2 reference(s)