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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Spata46tm1Itl
targeted mutation 1, Ingenious Targeting Laboratory
MGI:6356373
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Spata46tm1Itl/Spata46tm1Itl involves: 129S6/SvEvTac * C57BL/6NTac MGI:6360960


Genotype
MGI:6360960
hm1
Allelic
Composition
Spata46tm1Itl/Spata46tm1Itl
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Spata46tm1Itl mutation (0 available); any Spata46 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• male homozygotes show no alterations in sexual behavior, testis weight and size, sperm count or sperm motility relative to wild-type or heterozygous controls
• female homozygotes are fertile
• Hoechst-stained cauda sperm exhibit various morphological defects
• SEM analysis revealed a significantly higher frequency of sperm head malformations relative to wild-type or heterozygous controls
• misshapen sperm heads include mainly hammer- or axe-like shapes, unlike the hook-shaped sperm seen in wild-type controls
• a large fraction of spermatid acroplaxomes form abnormal vacuoles
• elongated spermatids show nuclear envelope and nuclear shape defects
• although the acrosome and acroplaxome are properly assembled on the surface of the electron-dense nuclear dense lamina (NDL) in elongating spermatids, the nuclei begin to show slight deformity
• in cauda sperm, the nuclear membrane does not conform closely to the nuclear outline, and an invagination remains in the nucleus
• condensed spermatids show structural defects including a discontinuous nuclear envelope and a cavity in the nucleus associated with an abnormal nuclear shape
• male homozygotes are subfertile
• IVF assays using cumulus-intact wild-type eggs revealed that mutant cauda sperm penetrate the zona pellucida but accumulate around the perivitelline space of eggs, suggesting abnormal sperm-egg fusion
• when zona-free wild-type eggs are inseminated with mutant caudal sperm, the average number of fused sperm per egg is significantly lower than that with wild-type sperm
• however, the in vitro acrosome reaction is normal as the cumulus mass surrounding eggs is removed by mutant sperm
• IVF assays using cumulus-intact wild-type eggs and mutant cauda sperm revealed that the two-cell cleavage rate scored 24 h after insemination is 16.5 +/- 3% versus 77.6 +/- 7% in wild-type sperm

cellular
• Hoechst-stained cauda sperm exhibit various morphological defects
• SEM analysis revealed a significantly higher frequency of sperm head malformations relative to wild-type or heterozygous controls
• misshapen sperm heads include mainly hammer- or axe-like shapes, unlike the hook-shaped sperm seen in wild-type controls
• a large fraction of spermatid acroplaxomes form abnormal vacuoles
• elongated spermatids show nuclear envelope and nuclear shape defects
• although the acrosome and acroplaxome are properly assembled on the surface of the electron-dense nuclear dense lamina (NDL) in elongating spermatids, the nuclei begin to show slight deformity
• in cauda sperm, the nuclear membrane does not conform closely to the nuclear outline, and an invagination remains in the nucleus
• condensed spermatids show structural defects including a discontinuous nuclear envelope and a cavity in the nucleus associated with an abnormal nuclear shape





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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
11/19/2024
MGI 6.24
The Jackson Laboratory