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Phenotypes Associated with This Genotype
Genotype
MGI:5428763
Allelic
Composition
Katnb1taily/Katnb1taily
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Katnb1taily mutation (1 available); any Katnb1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• number of Sertoli cells, spermatogonia and spermatocytes are similar to controls
• flimsy or absent outer dense fibers
• missing central microtubules and hemi-axenomes are present
• epididymes from mutant males contain significantly lower sperm counts
• abnormally shaped spermatid heads
• all sperm in the cauda epididymis have abnormally shaped heads
• ~30% fewer spermatids (round and elongating) compared to controls
• mutant spermatids exhibit constricted perinuclear rings, nuclear distortion and abnormally long microtubules extending in to the distal cytoplasm
• although the manchettes eventually resolved, the removal of manchettes was delayed at step 13
• all sperm in the cauda epididymis display compromised motility, with very few capable of forward (progressive) motility
• testes from 8-12 week old homozygous mice are 18.7% smaller than controls
• binucleated haploid spermatids frequently appear
• abnormal male meiotic cells appear at metaphase-anaphase; many cells are stalled in late anaphase in mutant males
• reduction in spermatid number is due to a decrease in the number of cells exiting meiosis
• apoptotic cells are present in the stage XII and stage I tubules where final events of meiosis occur
• telophase cells with prominent midbody microtubules are seen in testes from mutant male mice
• metaphase spindles are more densely populated with microtubules and project from the poles at a wider angle than controls pole to pole measurements in metaphase spindles are longer than controls
• 36-fold increase in the number of spermatozoa being phagocytosed by Sertoli cells in stages IX-X1 tubules

endocrine/exocrine glands
• testes from 8-12 week old homozygous mice are 18.7% smaller than controls

cellular
• flimsy or absent outer dense fibers
• missing central microtubules and hemi-axenomes are present
• epididymes from mutant males contain significantly lower sperm counts
• abnormally shaped spermatid heads
• all sperm in the cauda epididymis have abnormally shaped heads
• ~30% fewer spermatids (round and elongating) compared to controls
• mutant spermatids exhibit constricted perinuclear rings, nuclear distortion and abnormally long microtubules extending in to the distal cytoplasm
• although the manchettes eventually resolved, the removal of manchettes was delayed at step 13
• all sperm in the cauda epididymis display compromised motility, with very few capable of forward (progressive) motility


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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory