Katnal2^m1Anu
Chemically induced Allele Detail

Summary

• Symbol: Katnal2^m1Anu
• Name: katanin p60 subunit A-like 2; mutation 1, Australian National University
• MGI ID: MGI:6164198
• Synonyms: Katnal2^Y86C
• Gene: Katnal2 Location: Chr18:77064844-77135004 bp, - strand Genetic Position: Chr18, 52.02 cM, cytoband E3
• Alliance: Katnal2^m1Anu page

Sperm abnormalities in Katnal2^m1Anu/Katnal2^m1Anu mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: The molecular lesion is an A-to-G substitution in codon 86 within exon3, resulting in the substitution of tyrosine (TAC) to cysteine (TGC) in the encoded protein. qPCR analysis of mRNA transcript levels in whole testis homogenates revealed no difference between homozygous mutant mice and wild-type controls. However, Western blot analysis of the 46 kDa isoform in whole testis homogenates revealed that protein expression is reduced to 41% of wild-type levels. (J:250115)

Expression

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Katnal2 Mutation: 201 strains or lines available

References

• Original: J:250115 Dunleavy JEM, et al., Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse. PLoS Genet. 2017 Nov;13(11):e1007078
• All: 1 reference(s)