Ttn^tm2.1Mgot
Targeted Allele Detail

Summary

• Symbol: Ttn^tm2.1Mgot
• Name: titin; targeted mutation 2.1, Michael Gotthardt
• MGI ID: MGI:4946083
• Synonyms: N2B PEVK^-, PEVK^-
• Gene: Ttn Location: Chr2:76534324-76812891 bp, - strand Genetic Position: Chr2, 45.13 cM, cytoband D
• Alliance: Ttn^tm2.1Mgot page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:169969
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 219 through 225 were replaced with an FRT-flanked neo cassette. These exons encode the proline-glutamate-valine-lysine (PEVK) element. Flp-mediated recombination removed the neo cassette. The reduction of N2BA isoform relative to N2B isoforms was confirmed by western blot analysis. (J:169969)

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	Ttn^tm2.1Mgot/Ttn^tm2.1Mgot	involves: 129S6/SvEvTac * C57BL/6 * SJL
ht2	Ttn^tm2.1Mgot/Ttn^+	involves: 129S6/SvEvTac * C57BL/6 * SJL

Phenotypes:

Affected Systems	hm1	ht2
show or hide all annotated terms
cardiovascular system	√
increased myocardial fiber size	√
cardiac hypertrophy	√
increased heart left ventricle size	√
heart left ventricle hypertrophy	√
increased heart left ventricle weight	√
abnormal cardiac muscle contractility	√
growth/size/body	√
cardiac hypertrophy	√
heart left ventricle hypertrophy	√
muscle	√	√
increased myocardial fiber size	√
heart left ventricle hypertrophy	√
abnormal sarcomere morphology	√
abnormal muscle physiology	√	√
abnormal cardiac muscle contractility	√

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

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Ttn Mutation: 1457 strains or lines available

References

• Original: J:169969 Granzier HL, et al., Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction. Circ Res. 2009 Sep 11;105(6):557-64
• All: 3 reference(s)