Phenotypes associated with this allele

• Allele Symbol: Rsph6a^em1Osb
• Allele Name: endonuclease-mediated mutation 1, Osaka University
• Allele ID: MGI:6241356
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rsph6a^em1Osb/Rsph6a^em1Osb	involves: C57BL/6NJcl * DBA/2NJcl	MGI:6241367

Genotype
MGI:6241367

hm1

• Allelic Composition: Rsph6a^em1Osb/Rsph6a^em1Osb
• Genetic Background: involves: C57BL/6NJcl * DBA/2NJcl

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

reproductive system

immotile sperm ( J:266136 )

♂ • immotile sperm

abnormal spermatogenesis ( J:266136 )

♂ • absence of elongated sperm tails (stage VII-VIII) in seminiferous tubules

♂ • however, spermatogonia and spermatocyte development are comparable to controls

♂ • retained elongated spermatids are frequently seen in stage IX tubules

abnormal sperm axoneme morphology ( J:266136 )

♂ • axonemes with disrupted 9+2 patterns are seen in the mitochondrial sheath

abnormal sperm mitochondrial sheath morphology ( J:266136 )

♂ • expression of TOMM20 is absent or mislocalized indicating disruption of mitochondrial sheath formation

abnormal sperm fibrous sheath morphology ( J:266136 )

♂ • expression of CABYR is absent or uneven indicating a defect in fibrous sheath formation

short sperm flagellum ( J:266136 )

♂ • average length is 24.6 +/- 22.9 um

abnormal sperm head morphology ( J:266136 )

♂ • abnormal head shapes indicate impaired nuclear condensation

♂ • club-shaped heads

abnormal manchette disassembly ( J:266136 )

♂ • removal or caudal movement of manchettes is atypical

male infertility ( J:266136 )

♂ • males form copulatory plugs but fail to sire litters

♂ • males can produce viable offspring with intracytoplasmic sperm injection

cellular

abnormal sperm axoneme morphology ( J:266136 )

♂ • axonemes with disrupted 9+2 patterns are seen in the mitochondrial sheath

abnormal sperm mitochondrial sheath morphology ( J:266136 )

♂ • expression of TOMM20 is absent or mislocalized indicating disruption of mitochondrial sheath formation

abnormal sperm fibrous sheath morphology ( J:266136 )

♂ • expression of CABYR is absent or uneven indicating a defect in fibrous sheath formation

short sperm flagellum ( J:266136 )

♂ • average length is 24.6 +/- 22.9 um

abnormal sperm head morphology ( J:266136 )

♂ • abnormal head shapes indicate impaired nuclear condensation

♂ • club-shaped heads

abnormal manchette disassembly ( J:266136 )

♂ • removal or caudal movement of manchettes is atypical

immotile sperm ( J:266136 )

♂ • immotile sperm