Ctns^tm1Antc
Targeted Allele Detail

Summary

• Symbol: Ctns^tm1Antc
• Name: cystinosis, nephropathic; targeted mutation 1, Corinne Antignac
• MGI ID: MGI:2388945
• Synonyms: Ctns-
• Gene: Ctns Location: Chr11:73074422-73089868 bp, - strand Genetic Position: Chr11, 45.25 cM
• Alliance: Ctns^tm1Antc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:79610
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: The endogenous allele was disrupted by the insertion of a construct containing an IRES linked beta-geo cassette. Normal transcript was undetected in homozygous mutant mice by Northern blot analysis. The absence of functional protein was indicated by the observation of incorrect localization and a lack of cystine transport activity. (J:79610)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Ctns Mutation: 27 strains or lines available

References

• Original: J:79610 Cherqui S, et al., Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol. 2002 Nov;22(21):7622-32
• All: 27 reference(s)