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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap44em1Pfr
endonuclease-mediated mutation 1, Pierre F Ray
MGI:6140014
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap44em1Pfr/Cfap44em1Pfr involves: C57BL/6J MGI:6157855
ht2
Cfap44em1Pfr/Cfap44+ involves: C57BL/6J MGI:6157856


Genotype
MGI:6157855
hm1
Allelic
Composition
Cfap44em1Pfr/Cfap44em1Pfr
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap44em1Pfr mutation (0 available); any Cfap44 mutation (84 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
• in the midpiece, the number of outer dense fibers (ODFs) is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• in the principal piece, ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the fibrous sheath stalks of on microtubule doublets 3 and 8
• sperm show multiple structural axonemal defects; the 9+2 organization is preserved in 70% of cases
• defects include loss of peripheral doublets, external shift or mislocalization of the central pair, and distorted circular distribution of the doublets of microtubules (DMTs) with central pair complex (CPC) misorientation
• although sperm flagellum length is normal, most sperm show abnormal forms and irregular caliber of the midpiece
• number of ODFs is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• staining of Mpc1l (a sperm mitochondrial protein) appears discontinuous or punctiform, suggesting that the mitochondria sheath is fragmented
• TEM revealed that mitochondria are fragmented and irregularly layered
• a high % of sperm exhibit abnormal principal piece morphology, including severe defects in the fibrous sheath (FS)
• ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the FS stalks on DMTs 3 and 8
• longitudinal columns are misaligned and not facing the 3-central-8 complex, leading to structural asymmetry; a third longitudinal column is present in numerous sperm, further increasing asymmetry
• sperm show complete loss of total and progressive motility
• occasionally, sperm exhibit small vibrations with defective flagellum beat
• 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
• in the midpiece, the number of outer dense fibers (ODFs) is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• in the principal piece, ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the fibrous sheath stalks of on microtubule doublets 3 and 8
• sperm show multiple structural axonemal defects; the 9+2 organization is preserved in 70% of cases
• defects include loss of peripheral doublets, external shift or mislocalization of the central pair, and distorted circular distribution of the doublets of microtubules (DMTs) with central pair complex (CPC) misorientation
• although sperm flagellum length is normal, most sperm show abnormal forms and irregular caliber of the midpiece
• number of ODFs is significantly increased and their localization and orientation is defective, leading to an increased midpiece diameter
• staining of Mpc1l (a sperm mitochondrial protein) appears discontinuous or punctiform, suggesting that the mitochondria sheath is fragmented
• TEM revealed that mitochondria are fragmented and irregularly layered
• a high % of sperm exhibit abnormal principal piece morphology, including severe defects in the fibrous sheath (FS)
• ODFs 3 and 8 are abnormally retained, preventing normal anchoring of the FS stalks on DMTs 3 and 8
• longitudinal columns are misaligned and not facing the 3-central-8 complex, leading to structural asymmetry; a third longitudinal column is present in numerous sperm, further increasing asymmetry
• sperm show complete loss of total and progressive motility
• occasionally, sperm exhibit small vibrations with defective flagellum beat




Genotype
MGI:6157856
ht2
Allelic
Composition
Cfap44em1Pfr/Cfap44+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap44em1Pfr mutation (0 available); any Cfap44 mutation (84 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• male heterozygotes display an increased proportion of morphologically abnormal spermatozoa
• however, total and progressive sperm motility is relatively normal

cellular
• male heterozygotes display an increased proportion of morphologically abnormal spermatozoa
• however, total and progressive sperm motility 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
10/29/2024
MGI 6.24
The Jackson Laboratory