Nhlrc1^tm1Bmin
Targeted Allele Detail

Summary

• Symbol: Nhlrc1^tm1Bmin
• Name: NHL repeat containing 1; targeted mutation 1, Berge A Minassian
• MGI ID: MGI:5312923
• Synonyms: EPM2B^-, malin^-
• Gene: Nhlrc1 Location: Chr13:47166033-47168326 bp, - strand Genetic Position: Chr13, 24.5 cM
• Alliance: Nhlrc1^tm1Bmin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:181674
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• The coding exon was replaced with a floxed neo cassette. (J:181674)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Nhlrc1 Mutation: 16 strains or lines available

References

• Original: J:181674 Turnbull J, et al., Glycogen hyperphosphorylation underlies lafora body formation. Ann Neurol. 2010 Dec;68(6):925-33
• All: 10 reference(s)