Epm2a<tm1Kzy> Targeted Allele Detail MGI Mouse (MGI:2182627)

Epm2a^tm1Kzy
Targeted Allele Detail

Summary

Symbol:	Epm2a^tm1Kzy
Name:	epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; targeted mutation 1, Kazuhiro Yamakawa
MGI ID:	MGI:2182627
Synonyms:	Epm2a-, laforin-deficient
Gene:	Epm2a Location: Chr10:11219148-11335388 bp, + strand Genetic Position: Chr10, 3.66 cM, cytoband A
Alliance:	Epm2a^tm1Kzy page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:76688
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Exon 4 encoding the dual-specificity phosphatase domain (DSPD) was replaced with a neomycin resistance gene via homologous recombination. Absence of gene expression was verified by Northern blot and RT-PCR analysis of brain and liver tissue from homozygous mutant animals using probes to the DSPD exon and upstream exons 1-3. (J:76688)

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
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hm1	Epm2a^tm1Kzy/Epm2a^tm1Kzy	involves: 129P2/OlaHsd
hm2 Disease Model	Epm2a^tm1Kzy/Epm2a^tm1Kzy	involves: 129P2/OlaHsd * C57BL/6J
cx3	Epm2a^tm1Kzy/Epm2a^tm1Kzy Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr	involves: 129P2/OlaHsd * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	cx3
show or hide all annotated terms
adipose tissue		√
increased body fat mass		√
behavior/neurological		√
abnormal passive avoidance behavior		√
increased fluid intake		√
polyphagia		√
increased startle reflex		√
ataxia		√
impaired balance		√
impaired coordination		√
decreased grip strength		√
myoclonus		√
cardiovascular system		√
increased cardiac muscle glycogen level		√
abnormal heart morphology		√
increased cardiac muscle cell glucose uptake		√
cellular		√
increased cardiac muscle cell glucose uptake		√
increased neuron apoptosis		√
growth/size/body		√
increased body fat mass		√
increased body weight		√
homeostasis/metabolism		√	N
homeostasis/metabolism phenotype			N
increased cardiac muscle glycogen level		√
hypoglycemia		√
increased circulating ketone body level		√
increased circulating cholesterol level		√
increased circulating free fatty acids level		√
increased circulating triglyceride level		√
increased energy expenditure		√
abnormal enzyme/coenzyme level		√
increased oxygen consumption		√
increased respiratory quotient		√
improved glucose tolerance		√
increased insulin sensitivity		√
increased liver cholesterol level		√
increased liver triglyceride level		√
liver/biliary system		√
increased liver cholesterol level		√
increased liver triglyceride level		√
hepatic steatosis		√
muscle		√
myoclonus		√
increased cardiac muscle glycogen level		√
increased cardiac muscle cell glucose uptake		√
muscle weakness		√
nervous system	√	√	√
nervous system phenotype			N
myoclonus		√
increased neuron apoptosis		√
hippocampal neuron degeneration		√
abnormal Purkinje cell morphology			√
Purkinje cell degeneration		√
Lafora bodies	√	√	√
axon degeneration		√
abnormal brain wave pattern		√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
Lafora disease IDs Lafora disease DOID:3534 MESH:D020192 NCI:C84804 OMIM:254780 UMLS_CUI:C0751783 Close	√

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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 Epm2a Mutation:	28 strains or lines available

References

Original:	J:76688 Ganesh S, et al., Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet. 2002 May 15;11(11):1251-62
All:	46 reference(s)

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