Pdlim3^tm1Krc
Targeted Allele Detail

Summary

• Symbol: Pdlim3^tm1Krc
• Name: PDZ and LIM domain 3; targeted mutation 1, Kenneth R Chien
• MGI ID: MGI:2388199
• Synonyms: Alp^-
• Gene: Pdlim3 Location: Chr8:46338498-46372585 bp, + strand Genetic Position: Chr8, 25.86 cM
• Alliance: Pdlim3^tm1Krc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:69097
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was disrupted by insertion of a lacZ-PGK-neo cassette downstream of the translation initation codon. Western blot analysis of skeletal muscle protein from homozygous mutant animals confirmed the absence of gene expression. (J:69097)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Pdlim3 Mutation: 19 strains or lines available

Notes

Although Pdlim3^tm1Krc homozygous mutant mice lack certain key features of human arrhythmogenic RV dysplasia (ARVD), such as arrhythmogenesis and fatty infiltration of the RV wall, their unique cardiomyopathy phenotype does resemble the preferential RV dilation with mild LV dysfunction observed in ARVD (J:69097).

References

• Original: J:69097 Pashmforoush M, et al., Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med. 2001 May;7(5):591-7
• All: 2 reference(s)