Nexn^tm1.1Zhh
Targeted Allele Detail

Summary

• Symbol: Nexn^tm1.1Zhh
• Name: nexilin; targeted mutation 1.1, Zouhair Aherrahrou
• MGI ID: MGI:5780982
• Gene: Nexn Location: Chr3:151942619-151971987 bp, - strand Genetic Position: Chr3, 77.07 cM
• Alliance: Nexn^tm1.1Zhh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228046
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion
• Mutation details: A loxP site was inserted upstream of exon 2 and downstream of exon 4. Cre-mediated recombination removed exons 2 through 4. Western blot analysis confirmed the absence of protein expression. Western blot analysis confirmed the absence of protein expression in the heart. (J:228046)

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	Nexn^tm1.1Zhh/Nexn^tm1.1Zhh	involves: C57BL/6NTac
ht2	Nexn^tm1.1Zhh/Nexn^+	involves: C57BL/6NTac

Phenotypes:

Affected Systems	hm1	ht2
show or hide all annotated terms
cardiovascular system	√	√
abnormal heart morphology	√
increased heart weight	√
increased heart left ventricle size	√
dilated heart left ventricle	√
cardiac fibrosis	√
dilated cardiomyopathy	√	√
decreased cardiac muscle contractility	√
growth/size/body	√
increased heart weight	√
mortality/aging	√
postnatal lethality, incomplete penetrance	√
muscle	√	√
dilated cardiomyopathy	√	√
decreased cardiac muscle contractility	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
hypertrophic cardiomyopathy 20 IDs hypertrophic cardiomyopathy 20       DOID:0110326 OMIM:613876 Close	√

Expression

In Structures Affected by this Mutation:

3 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 Nexn Mutation: 28 strains or lines available

Notes

ES cell line = 2066 A-F9 (strain not specified)

References

• Original: J:228046 Aherrahrou Z, et al., Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis. Basic Res Cardiol. 2016 Jan;111(1):6
• All: 2 reference(s)