Lmna^tm3Stw
Targeted Allele Detail

Summary

• Symbol: Lmna^tm3Stw
• Name: lamin A; targeted mutation 3, Colin L Stewart
• MGI ID: MGI:3588578
• Synonyms: LMNA-N195K
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm3Stw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:100393
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: An N195K missense mutation was introduced into exon 3 but did not affect the expression levels or the stability of the transcript. A mutant lamin C protein was detected in hearts, however, the expression was less than that of wild-type, suggesting that the protein was less stable than the wild-type protein. (J:100393)

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)
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hm1  Disease Model	Lmna^tm3Stw/Lmna^tm3Stw	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
decreased locomotor activity	√
cardiovascular system	√
abnormal myocardial fiber morphology	√
myocardial fiber degeneration	√
thin myocardium	√
cardiac muscle degeneration	√
cardiac interstitial fibrosis	√
dilated cardiomyopathy	√
decreased heart left ventricle muscle contractility	√
decreased heart rate	√
prolonged PR interval	√
cellular	√
cardiac interstitial fibrosis	√
growth/size/body	√
postnatal growth retardation	√
integument	√
disheveled coat	√
mortality/aging	√
premature death	√
muscle	√
abnormal myocardial fiber morphology	√
myocardial fiber degeneration	√
thin myocardium	√
cardiac muscle degeneration	√
dilated cardiomyopathy	√
decreased heart left ventricle muscle contractility	√

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

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	hm1
dilated cardiomyopathy 1A IDs dilated cardiomyopathy 1A       DOID:0110425 OMIM:115200 ORDO:300751 Close	√

Expression

In Structures Affected by this Mutation:

2 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 Lmna Mutation: 84 strains or lines available

References

• Original: J:100393 Mounkes LC, et al., Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet. 2005 Aug 1;14(15):2167-80
• All: 5 reference(s)