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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap43em1Pfr
endonuclease-mediated mutation 1, Pierre F Ray
MGI:6140013
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap43em1Pfr/Cfap43em1Pfr involves: C57BL/6J MGI:6157853
ht2
Cfap43em1Pfr/Cfap43+ involves: C57BL/6J MGI:6157854


Genotype
MGI:6157853
hm1
Allelic
Composition
Cfap43em1Pfr/Cfap43em1Pfr
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap43em1Pfr mutation (0 available); any Cfap43 mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sperm abnormalities in Cfap43em1Pfr/Cfap43em1Pfr and Cfap44em1Pfr/Cfap44em1Pfr males

reproductive system
• male homozygotes show a significantly increased proportion of morphologically abnormal spermatozoa
• 100% of sperm exhibit short, thick, and coiled flagella
• sperm axoneme is highly abnormal; the doublets of microtubules (DMTs) are completely disorganized and the central pair and head of the radial spoke interacting with the central pair are absent
• head of the radial spoke interacting with the central pair is absent
• TEM revealed that the short sperm tail actually corresponds to a large cytoplasmic mass containing unorganized structural components of the flagellum
• sperm head is slightly deformed but shows an overall normal hooked form
• sperm are completely immotile showing loss of both total and progressive motility
• although epididymal sperm concentrations are within normal range, male homozygotes show complete sterility when mated with wild-type females
• in contrast, female homozygotes are fully fertile and produce litters of normal size

cellular
• male homozygotes show a significantly increased proportion of morphologically abnormal spermatozoa
• 100% of sperm exhibit short, thick, and coiled flagella
• sperm axoneme is highly abnormal; the doublets of microtubules (DMTs) are completely disorganized and the central pair and head of the radial spoke interacting with the central pair are absent
• head of the radial spoke interacting with the central pair is absent
• TEM revealed that the short sperm tail actually corresponds to a large cytoplasmic mass containing unorganized structural components of the flagellum
• sperm head is slightly deformed but shows an overall normal hooked form
• sperm are completely immotile showing loss of both total and progressive motility




Genotype
MGI:6157854
ht2
Allelic
Composition
Cfap43em1Pfr/Cfap43+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap43em1Pfr mutation (0 available); any Cfap43 mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• male heterozygotes show impaired progressive sperm motility
• however, sperm morphology is relatively normal

cellular
• male heterozygotes show impaired progressive sperm motility
• however, sperm morphology is relatively normal





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
09/17/2024
MGI 6.24
The Jackson Laboratory