Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Nhlrc1tm1Bmin
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:	Nhlrc1tm1Bmin page

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

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	14 strains or lines available

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)