Cdk5r1^tm1Lht
Targeted Allele Detail

Summary

• Symbol: Cdk5r1^tm1Lht
• Name: cyclin dependent kinase 5, regulatory subunit 1; targeted mutation 1, Li-Huei Tsai
• MGI ID: MGI:1931885
• Synonyms: p35-
• Gene: Cdk5r1 Location: Chr11:80367849-80372010 bp, + strand Genetic Position: Chr11, 47.94 cM
• Alliance: Cdk5r1^tm1Lht page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:38857
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• A neomycin resistance cassette replaced 1.4 kb of sequence, including the entire open reading frame. (J:38857)
• Inheritance: Recessive

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)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Cdk5r1^tm1Lht/Cdk5r1^tm1Lht	involves: 129S4/SvJae
hm2	Cdk5r1^tm1Lht/Cdk5r1^tm1Lht	involves: 129S4/SvJae * C57BL/6
cx3	Cdk5r1^tm1Lht/Cdk5r1^tm1Lht Cdk5r2^tm1Lht/Cdk5r2^+	involves: 129S4/SvJae * C57BL/6
cx4	Cdk5r1^tm1Lht/Cdk5r1^+ Cdk5r2^tm1Lht/Cdk5r2^tm1Lht	involves: 129S4/SvJae * C57BL/6
cx5	Cdk5r1^tm1Lht/Cdk5r1^tm1Lht Cdk5r2^tm1Lht/Cdk5r2^tm1Lht	involves: 129S4/SvJae * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	cx3	cx4	cx5
show or hide all annotated terms
behavior/neurological	√	√			√
abnormal behavioral response to xenobiotic	√
abnormal sensitization to xenobiotic	√
unresponsive to tactile stimuli					√
weakness					√
hyperactivity	√
seizures	√	√
increased susceptibility to pharmacologically induced seizures		√
cellular	√			√	√
abnormal neuron differentiation				√	√
abnormal axon extension	√
increased cellular glucose import	√
embryo					√
decreased embryo size					√
growth/size/body					√
decreased embryo size					√
homeostasis/metabolism	√
increased serotonin level	√
abnormal physiological response to xenobiotic	√
mortality/aging	√	√	√		√
premature death	√	√	√
perinatal lethality, incomplete penetrance					√
nervous system	√	√	√	√	√
nervous system phenotype			N
seizures	√	√
increased susceptibility to pharmacologically induced seizures		√
abnormal neuron differentiation				√	√
abnormal axon extension	√
abnormal forebrain morphology	√	√
abnormal forebrain development	√
abnormal cortical marginal zone morphology				√	√
abnormal cortical plate morphology					√
thin cortical plate		√		√	√
abnormal subplate morphology		√
abnormal olfactory bulb development	√	√			√
dilated lateral ventricle	√	√
decreased corpus callosum size	√	√
abnormal striatum morphology	√
decreased striatum size		√
abnormal hippocampus morphology	√	√
abnormal dentate gyrus morphology	√	√			√
abnormal hippocampus layer morphology	√	√	√	√	√
abnormal cerebral cortex morphology	√	√			√
abnormal cerebral cortex pyramidal cell morphology		√
abnormal stratification in cerebral cortex	√
abnormal cerebellum morphology			√	√
abnormal cerebellum development					√
absent cerebellar foliation					√
abnormal cerebellum external granule cell layer morphology					√
ectopic Purkinje cell	√	√
absent Purkinje cell layer					√
abnormal cerebellar molecular layer	√	√
small cerebellum			√	√	√
abnormal innervation	√
abnormal motor neuron morphology					√
chromatolysis					√
reduced long-term potentiation	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
attention deficit hyperactivity disorder IDs attention deficit hyperactivity disorder       DOID:1094 DOID:1093 EFO:0003888 ICD9CM:314.8 MESH:D001289 OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 UMLS_CUI:C0041671 Close	√

Expression

In Mice Carrying this Mutation:	125 assay results
In Structures Affected by this Mutation:	10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cdk5r1 Mutation: 13 strains or lines available

References

• Original: J:38857 Chae T, et al., Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality. Neuron. 1997 Jan;18(1):29-42
• All: 28 reference(s)