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Nhlrc1tm1.2Geno
Targeted Allele Detail
Summary
Symbol: Nhlrc1tm1.2Geno
Name: NHL repeat containing 1; targeted mutation 1.2, Genoway
MGI ID: MGI:5312925
Synonyms: Epm2b-
Gene: Nhlrc1  Location: Chr13:47166033-47168326 bp, - strand  Genetic Position: Chr13, 24.5 cM
Alliance: Nhlrc1tm1.2Geno page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:181559
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    Cre-mediated recombination removed the neo cassette and coding exon. (J:181559)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
involves: 129S2/SvPas * C57BL/6J
 
Phenotypes:
Affected Systems
show or hide all annotated terms
 
behavior/neurological
abnormal object recognition memory
abnormal motor capabilities/coordination/movement
limb grasping
myoclonus
abnormal spike wave discharge
cellular
abnormal autophagy
homeostasis/metabolism
abnormal autophagy
muscle
myoclonus
nervous system
myoclonus
abnormal spike wave discharge
abnormal brain interneuron morphology
Lafora bodies
pigmentation
lipofuscinosis
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm1
IDs
Expression
In Structures Affected by this Mutation: 1 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:181559 Criado O, et al., Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy. Hum Mol Genet. 2012 Apr 1;21(7):1521-33
All:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory