Nhlrc1^em1Cwor
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nhlrc1^em1Cwor
• Name: NHL repeat containing 1; endonuclease-mediated mutation 1, Carolyn Worby
• MGI ID: MGI:6828603
• Synonyms: Malin D148N
• Gene: Nhlrc1 Location: Chr13:47166033-47168326 bp, - strand Genetic Position: Chr13, 24.5 cM
• Alliance: Nhlrc1^em1Cwor page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 148 (aspartic acid to asparagine, D148N). Loss of function mutations in malin, such as D146N (corresponding to mouse D148N), are associated with Lafora disease, a rare and severe form of progressive myoclonus epilepsy. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nhlrc1 Mutation: 14 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)