Hrc^tm1.1Desa
Targeted Allele Detail

Summary

• Symbol: Hrc^tm1.1Desa
• Name: histidine rich calcium binding protein; targeted mutation 1.1, Despina Sanoudou
• MGI ID: MGI:5911421
• Synonyms: HRC-Ser18Ala
• Gene: Hrc Location: Chr7:44984714-44988398 bp, + strand Genetic Position: Chr7, 29.26 cM
• Alliance: Hrc^tm1.1Desa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243733
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A substitution of serine by alanine at amino-acid position 81 (S81A), corresponding to the human variant of HRC with this substitution at position 96 (T286G) that is associated with higher risk of ventricular arrhythmias, was introduced in the gene. A frt flanked neo cassette was inserted upstream of the mutation and was removed via flp-mediated recombination. (J:243733)

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 Hrc Mutation: 43 strains or lines available

References

• Original: J:243733 Tzimas C, et al., Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant. Cardiovasc Res. 2017 Sep 01;113(11):1403-1417
• All: 1 reference(s)