Kdm5c^tm1.2Yshi
Targeted Allele Detail

Summary

• Symbol: Kdm5c^tm1.2Yshi
• Name: lysine demethylase 5C; targeted mutation 1.2, Yang Shi
• MGI ID: MGI:6163735
• Gene: Kdm5c Location: ChrX:151016016-151057531 bp, + strand Genetic Position: ChrX, 68.46 cM, cytoband F2-F4
• Alliance: Kdm5c^tm1.2Yshi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:262206
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 11 and a FRT-flanked PGK-neomycin resistance cassette and a second loxP site were inserted downstream of exon 12. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination deleted exons 11 and 12. Western blot analysis confirmed absence of protein in hemizygous males. (J:262206)

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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ot1  Disease Model	Kdm5c^tm1.2Yshi/Y	involves: 129 * 129S1/SvImJ * C57BL/6J

Phenotypes:

Affected Systems	ot1
show or hide all annotated terms Sex:
behavior/neurological	√
impaired contextual conditioning behavior	√
impaired cued conditioning behavior	√
impaired spatial learning	√
increased aggression towards mice	√
decreased anxiety-related response	√
abnormal impulsive behavior control	√
abnormal social investigation	√
growth/size/body	√
decreased body size	√
decreased body weight	√
homeostasis/metabolism	√
increased circulating testosterone level	√
nervous system	√
abnormal dendritic spine morphology	√
abnormal dendritic mushroom spine morphology	√
decreased dendritic spine density	√
abnormal pyramidal neuron dendrite morphology	√
reproductive system	N
reproductive system phenotype	N

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	ot1
syndromic X-linked intellectual disability Claes-Jensen type IDs syndromic X-linked intellectual disability Claes-Jensen type       DOID:0060809 ICD10CM:Q87.8 OMIM:300534 ORDO:85279 Close	√

Expression

In Mice Carrying this Mutation:	4 assay results 4 RNA-Seq or microarray experiment(s)
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 Kdm5c Mutation: 23 strains or lines available

References

• Original: J:262206 Iwase S, et al., A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. Cell Rep. 2016 Feb 9;14(5):1000-1009
• All: 6 reference(s)