Phenotypes associated with this allele

• Allele Symbol: Pmfbp1^em1Wli
• Allele Name: endonuclease-mediated mutation 1, Wei Li
• Allele ID: MGI:6259647
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pmfbp1^em1Wli/Pmfbp1^em1Wli	involves: C57BL/6J * DBA/2J	MGI:6259651

Genotype
MGI:6259651

hm1

• Allelic Composition: Pmfbp1^em1Wli/Pmfbp1^em1Wli
• Genetic Background: involves: C57BL/6J * DBA/2J

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

reproductive system

reproductive system phenotype ( J:266460 )

♂N • testes size and weight, total sperm number in the caudal epididymis, and seminiferous tubule morphology are similar to wild-type controls

abnormal sperm axoneme morphology ( J:266460 )

♂ • in the caudal epididymis

abnormal sperm connecting piece morphology ( J:266460 )

♂ • the coupling apparatus only partially connects with the sperm nucleus in the implantation fossa

absent sperm head ( J:266460 )

♂ • decapitated tails account for 98.74% +/- 2.13% of total sperm cells in the caudal epididymis

♂ • the head and tail appear to break apart during spermiation as the mature sperm head can be detected at stages IX-X

male infertility ( J:266460 )

♂ • males, but not females, are infertile

♂ • tailless sperm heads can be used to fertilize oocytes by using ICSI

cellular

abnormal sperm axoneme morphology ( J:266460 )

♂ • in the caudal epididymis

abnormal sperm connecting piece morphology ( J:266460 )

♂ • the coupling apparatus only partially connects with the sperm nucleus in the implantation fossa

absent sperm head ( J:266460 )

♂ • decapitated tails account for 98.74% +/- 2.13% of total sperm cells in the caudal epididymis

♂ • the head and tail appear to break apart during spermiation as the mature sperm head can be detected at stages IX-X

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
male infertility		DOID:12336		J:266460