Klc2^em1Jgao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Klc2^em1Jgao
• Name: kinesin light chain 2; endonuclease-mediated mutation 1, Jiangang Gao
• MGI ID: MGI:7610562
• Gene: Klc2 Location: Chr19:5157774-5168326 bp, - strand Genetic Position: Chr19, 4.25 cM
• Alliance: Klc2^em1Jgao page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination using guide RNAs targeting between intron 2 and intron 11 created a deletion removing exons 3 - 11. Western blot and q-PCR analysis confirmed the absence of expression in cochlea from homozygous mice. (J:345577)

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	Klc2^em1Jgao/Klc2^em1Jgao	involves: C57BL/6J

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cellular	√
abnormal mitochondrial morphology	√
hearing/vestibular/ear	√
abnormal cochlear inner hair cell morphology	√
abnormal cochlear outer hair cell morphology	√
decreased cochlear outer hair cell number	√
cochlear outer hair cell degeneration	√
impaired hearing	√
nervous system	√
abnormal cochlear inner hair cell morphology	√
abnormal cochlear outer hair cell morphology	√
decreased cochlear outer hair cell number	√
cochlear outer hair cell degeneration	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
nonsyndromic deafness IDs nonsyndromic deafness       DOID:0050563 MESH:C580334 Close	√

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 Klc2 Mutation: 20 strains or lines available

References

• Original: J:345577 Fu X, et al., Deficiency of Klc2 Induces Low-Frequency Sensorineural Hearing Loss in C57BL/6 J Mice and Human. Mol Neurobiol. 2021 Sep;58(9):4376-4391
• All: 1 reference(s)