Phenotypes associated with this allele

• Allele Symbol: Cfap44^em1Fzh
• Allele Name: endonuclease-mediated mutation 1, Feng Zhang
• Allele ID: MGI:6258948
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cfap44^em1Fzh/Cfap44^em1Fzh	involves: C57BL/6	MGI:6258951

Genotype
MGI:6258951

hm1

• Allelic Composition: Cfap44^em1Fzh/Cfap44^em1Fzh
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

abnormal sperm flagellum morphology ( J:258613 )

♂ • no normal sperm flagella are seen

♂ • sperm flagella are distorted and contain excess cytoplasm

♂ • 6.3% of sperm show irregular flagellum caliber

abnormal outer dense fiber morphology ( J:258613 )

♂ • outer dense fibers of the spermatozoa are scattered and disordered

abnormal sperm axoneme morphology ( J:258613 )

♂ • sperm lack the central pair of microtubules and the 9 peripheral microtubule doublets are scattered and disordered

absent sperm axonemal central pair ( J:258613 )

♂

absent sperm flagellum ( J:258613 )

♂ • 12% of sperm show absent flagella

coiled sperm flagellum ( J:258613 )

♂ • 25.8% of sperm show coiled flagella

kinked sperm flagellum ( J:258613 )

♂ • 5.5% of sperm show angulation

short sperm flagellum ( J:258613 )

♂ • 50.4% of sperm show short flagella

oligozoospermia ( J:258613 )

♂ • sperm count is decreased

asthenozoospermia ( J:258613 )

♂ • severe defects in sperm motility

abnormal cauda epididymis morphology ( J:258613 )

♂ • cauda epididymides show shedding of residual bodies, abnormal cells, and disorganized spermatozoa with flagellar malformations

♂ • however, spermatogonia and spermatocytes in seminiferous tubules have normal morphology

male infertility ( J:258613 )

♂ • males are infertile

cellular

abnormal sperm flagellum morphology ( J:258613 )

♂ • no normal sperm flagella are seen

♂ • sperm flagella are distorted and contain excess cytoplasm

♂ • 6.3% of sperm show irregular flagellum caliber

abnormal outer dense fiber morphology ( J:258613 )

♂ • outer dense fibers of the spermatozoa are scattered and disordered

abnormal sperm axoneme morphology ( J:258613 )

♂ • sperm lack the central pair of microtubules and the 9 peripheral microtubule doublets are scattered and disordered

absent sperm axonemal central pair ( J:258613 )

♂

absent sperm flagellum ( J:258613 )

♂ • 12% of sperm show absent flagella

coiled sperm flagellum ( J:258613 )

♂ • 25.8% of sperm show coiled flagella

kinked sperm flagellum ( J:258613 )

♂ • 5.5% of sperm show angulation

short sperm flagellum ( J:258613 )

♂ • 50.4% of sperm show short flagella

oligozoospermia ( J:258613 )

♂ • sperm count is decreased

asthenozoospermia ( J:258613 )

♂ • severe defects in sperm motility

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spermatogenic failure 20		DOID:0070166	OMIM:617593	J:258613