Myh6^tm1.1Jpsc
Targeted Allele Detail

Summary

• Symbol: Myh6^tm1.1Jpsc
• Name: myosin, heavy polypeptide 6, cardiac muscle, alpha; targeted mutation 1.1, Joachim P Schmitt
• MGI ID: MGI:6356699
• Synonyms: VM
• Gene: Myh6 Location: Chr14:55179378-55204384 bp, - strand Genetic Position: Chr14, 28.01 cM
• Alliance: Myh6^tm1.1Jpsc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:247162
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 16 was replaced with one containing an amino acid substitution of valine with methionine at position 606 (V606M). A loxP flanked neomycin-resistance gene was inserted upstream of exon 16 and was removed by cre-mediated recombination. (J:247162)

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	Myh6^tm1.1Jpsc/Myh6^tm1.1Jpsc	involves: 129
ht2	Myh6^tm1.1Jpsc/Myh6^+	involves: 129
ht3  Disease Model	Myh6^tm1.1Jpsc/Myh6^tm2Jse	involves: 129

Phenotypes:

Affected Systems	hm1	ht2	ht3
show or hide all annotated terms
cardiovascular system	N	√	√
cardiovascular system phenotype	N	N
increased myocardial fiber size			√
increased heart weight			√
cardiac hypertrophy		√	√
myocardium hypertrophy			√
thick ventricular wall			√
cardiac fibrosis			√
abnormal cardiovascular system physiology			√
decreased cardiac stroke volume			√
decreased heart ventricle muscle contractility			√
abnormal cardiac muscle relaxation			√
abnormal heart echocardiography feature			√
growth/size/body		√	√
increased heart weight			√
cardiac hypertrophy		√	√
myocardium hypertrophy			√
homeostasis/metabolism		√
increased physiological sensitivity to xenobiotic		√
mortality/aging			√
premature death			√
muscle			√
increased myocardial fiber size			√
myocardium hypertrophy			√
decreased heart ventricle muscle contractility			√
abnormal cardiac muscle relaxation			√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht3
hypertrophic cardiomyopathy 14 IDs hypertrophic cardiomyopathy 14       DOID:0110320 OMIM:613251 Close	√

Expression

In Structures Affected by this Mutation:

4 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 Myh6 Mutation: 207 strains or lines available

References

• Original: J:247162 Blankenburg R, et al., beta-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. Circ Res. 2014 Jul 07;115(2):227-37
• All: 1 reference(s)