About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory