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Katnal11H
Chemically induced Allele Detail
Summary
Symbol: Katnal11H
Name: katanin p60 subunit A-like 1; ENU mutation 1, Harwell
MGI ID: MGI:5309172
Gene: Katnal1  Location: Chr5:148808394-148865978 bp, - strand  Genetic Position: Chr5, 89.04 cM
Alliance: Katnal11H page
Katnal11H/Katnal11H mice show disruption of the seminiferous epithelium associated with a reduction in numbers of post-meiotic germ cells

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details: A single point mutation (T to G) is located in exon 7. This point mtation results in a leucine to valine substitution at residue 286, within a conserved ATPase domain and creates a novel HpyAV restriction-enzyme recognition site. In vitro analysis indicates that this is a loss of function allele. In Sertoli cells from homozygous mice protein is restricted to the basal compartment rather than being throughout the basal and adluminal compartments. (J:185195)
Inheritance:    Recessive
Schematic of the Katnal11H allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 5 assay results
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Katnal1 Mutation:  24 strains or lines available
References
Original:  J:185195 Smith LB, et al., KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics Is Essential for Spermiogenesis and Male Fertility. PLoS Genet. 2012 May;8(5):e1002697
All:  2 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory