Phenotypes associated with this allele

• Allele Symbol: Dnah8^em1Osb
• Allele Name: endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
• Allele ID: MGI:6473983
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnah8^em1Osb/Dnah8^em1Osb	involves: C57BL/6 * DBA/2	MGI:6473984

Genotype
MGI:6473984

hm1

• Allelic Composition: Dnah8^em1Osb/Dnah8^em1Osb
• Genetic Background: involves: C57BL/6 * DBA/2

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

reproductive system

immotile sperm ( J:297137 )

♂ • diminished sperm movement

abnormal spermatogenesis ( J:297137 )

♂ • in stage VII-VIII seminiferous tubules, normal round spermatids are seen but elongated tails are not seen and cauda epididymis shows decreased sperm quantity indicating impaired spermatogenesis

abnormal sperm flagellum morphology ( J:297137 )

♂ • sperm show higher rates of abnormal flagella including irregular shapes in some sperm

♂ • 20.5 +/- 12.6% of sperm show irregular flagellum caliber

abnormal outer dense fiber morphology ( J:297137 )

♂ • outer dense fibers are disorganized

abnormal sperm axoneme morphology ( J:297137 )

♂ • the midpiece and principal piece of sperm flagella shows disorganization of microtubules and outer dense fibers

disorganized sperm mitochondrial sheath ( J:297137 )

♂ • midpiece of sperm flagella shows disorganization of mitochondrial sheaths

abnormal sperm fibrous sheath morphology ( J:297137 )

♂ • principal piece of sperm flagella shows disorganization of fibrous sheaths

absent sperm flagellum ( J:297137 )

♂ • 18.5 +/- 17.8% of sperm show absent flagella

coiled sperm flagellum ( J:297137 )

♂ • 25.5% +/- 15.6% of sperm show coiled flagella

kinked sperm flagellum ( J:297137 )

♂ • 9.8% +/- 1.6% of sperm show bent flagella

short sperm flagellum ( J:297137 )

♂ • 25.7 +/- 1.2% of sperm show short flagella

male infertility ( J:297137 )

♂ • males fail to produce offspring

♂ • however, pups are obtained upon intracytoplasmic sperm injection using mutant spermatozoa

cellular

abnormal sperm flagellum morphology ( J:297137 )

♂ • sperm show higher rates of abnormal flagella including irregular shapes in some sperm

♂ • 20.5 +/- 12.6% of sperm show irregular flagellum caliber

abnormal outer dense fiber morphology ( J:297137 )

♂ • outer dense fibers are disorganized

abnormal sperm axoneme morphology ( J:297137 )

♂ • the midpiece and principal piece of sperm flagella shows disorganization of microtubules and outer dense fibers

disorganized sperm mitochondrial sheath ( J:297137 )

♂ • midpiece of sperm flagella shows disorganization of mitochondrial sheaths

abnormal sperm fibrous sheath morphology ( J:297137 )

♂ • principal piece of sperm flagella shows disorganization of fibrous sheaths

absent sperm flagellum ( J:297137 )

♂ • 18.5 +/- 17.8% of sperm show absent flagella

coiled sperm flagellum ( J:297137 )

♂ • 25.5% +/- 15.6% of sperm show coiled flagella

kinked sperm flagellum ( J:297137 )

♂ • 9.8% +/- 1.6% of sperm show bent flagella

short sperm flagellum ( J:297137 )

♂ • 25.7 +/- 1.2% of sperm show short flagella

immotile sperm ( J:297137 )

♂ • diminished sperm movement

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spermatogenic failure 46		DOID:0112164	OMIM:619095	J:297137