Csrp3^tm1.1Kage
Targeted Allele Detail

Summary

• Symbol: Csrp3^tm1.1Kage
• Name: cysteine and glycine-rich protein 3; targeted mutation 1.1, Katja Gehmlich
• MGI ID: MGI:7509517
• Synonyms: Csrp3 C58G
• Gene: Csrp3 Location: Chr7:48480146-48497781 bp, - strand Genetic Position: Chr7, 31.11 cM, cytoband B3
• Alliance: Csrp3^tm1.1Kage page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:307893
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: The targeting vector used to create the Csrp3^{tm1a(EUCOMM)Hmgu}allele was modified with a T-to-G mutation to change cysteine codon 58 (TGT) in exon 3 to glycine (GGT) (p.C58G). Founder mice created after homologous recombination with this modified vector were crossed with Flpe expressing mice, resulting in the removal of the FRT site flanked lacZ and neomycin resistance gene cassettes inserted into intron 2. The resulting allele contains single FRT and loxP sites in intron 2 and an exon 3 with the p.C58G mutation. The mutation mimics the same human mutation associated with hypertrophic cardiomyopathy (HCM). (J:307893)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Csrp3 Mutation: 15 strains or lines available

References

• Original: J:307893 Ehsan M, et al., Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. J Mol Cell Cardiol. 2018 Aug;121:287-296
• All: 1 reference(s)