Slc7a9^tm1Nune
Targeted Allele Detail

Summary

• Symbol: Slc7a9^tm1Nune
• Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9; targeted mutation 1, Virginia Nunes
• MGI ID: MGI:2677350
• Synonyms: Slc7a9^-/-, Stones
• Gene: Slc7a9 Location: Chr7:35148221-35165461 bp, + strand Genetic Position: Chr7, 21.37 cM, cytoband B1
• Alliance: Slc7a9^tm1Nune page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:85462
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 6.1 kb of sequence, encompassing exons 3 through 9, was replaced with a neo cassette. Though wild-type transcript was undetected by Northern blot analysis of RNA isolated from the kidney cortex and medulla and from the jejunum, an aberrant trancscript in which exons 2 and 10 had spliced together was identified. This transcript contains frameshifted sequence and lacks sequence encoding the 12 transmembrane domains. Protein was undetected in homozygous mutant mice by Western blot analysis in both reducing and non-reducing conditions. (J:85462)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Slc7a9 Mutation: 34 strains or lines available

References

• Original: J:85462 Feliubadalo L, et al., Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Hum Mol Genet. 2003 Sep 1;12(17):2097-108
• All: 4 reference(s)