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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
Nhlrc1tm1.2Geno/Nhlrc1tm1.2Geno
involves: 129S2/SvPas * C57BL/6J
 
Phenotypes:
Affected Systems
hm1
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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory