Ppp3r1^tm1.1Jhon
Targeted Allele Detail

Summary

• Symbol: Ppp3r1^tm1.1Jhon
• Name: protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I); targeted mutation 1.1, Jiang Hong
• MGI ID: MGI:6490502
• Gene: Ppp3r1 Location: Chr11:17109298-17150380 bp, + strand Genetic Position: Chr11, 9.71 cM, cytoband A3.1
• Alliance: Ppp3r1^tm1.1Jhon page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:298603
• Parent Cell Line: B6/BLU (ES Cell)
• Strain of Origin: C57BL/6NTac-Tg(HBB-lacZ)ALey/Ley

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to C change at position 305 resulting in an aspartate to alanine substitution at amino acid 102 (p.D102A) was introduced into exon 4. In addition, a loxP-flanked neomycin selection cassette was inserted between exon 3 and 4, which was removed via cre-mediated recombination. The p.D102A variant was detected in a proband with dilated cardiomyopathy. (J:298603)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Ppp3r1 Mutation: 31 strains or lines available

References

• Original: J:298603 Jinqiang Zhuang MD, et al., The CnB1 p.D102A variant is linked to dilated cardiomyopathy via impaired Calcineurin activity. J Mol Cell Cardiol. 2020 Aug 31;148:15-24
• All: 1 reference(s)