Phenotypes associated with this allele

• Allele Symbol: Ccdc136^em1Smoc
• Allele Name: endonuclease-mediated mutation 1, Shanghai Model Organisms Center
• Allele ID: MGI:6161253
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ccdc136^em1Smoc/Ccdc136^em1Smoc	involves: C57BL/6J	MGI:6162248

Genotype
MGI:6162248

hm1

• Allelic Composition: Ccdc136^em1Smoc/Ccdc136^em1Smoc
• Genetic Background: involves: C57BL/6J

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

reproductive system

globozoospermia ( J:237643 )

♂ • mature sperm exhibit a round head morphology, unlike the sickle shaped sperm seen in heterozygous controls

♂ • % of round-headed sperm is significantly increased in adulthood relative to that in heterozygous controls

♂ • expression of other acrosome formation-associated genes (Spaca1 and Pick1) is significantly downregulated, indicating acrosome malformation during spermatogenesis

abnormal sperm nucleus morphology ( J:237643 )

♂ • although spermatids exhibit morphologically normal nuclei in the Golgi and cap phases, nuclei remain round shaped in the acrosome and maturation phases, unlike in heterozygous controls

decreased sperm progressive motility ( J:237643 )

♂ • in adult mice, % of linear motile sperm is significantly lower than that in heterozygous controls

asthenozoospermia ( J:237643 )

♂ • in adult mice, % of motile and linear motile sperm is significantly lower than that in heterozygous controls

male infertility ( J:237643 )

♂ • all males are completely infertile

♂ • however, mating behavior, adult testis weight, and total sperm counts are normal

decreased fertilization frequency ( J:237643 )

♂ • an in vitro fertilization assay revealed that use of anti-CCDC136 antibody dropped the fertilization rate (i.e. % of 2-cell embryos) to 19% relative to 58% in the control IgG antibody group

cellular

globozoospermia ( J:237643 )

♂ • mature sperm exhibit a round head morphology, unlike the sickle shaped sperm seen in heterozygous controls

♂ • % of round-headed sperm is significantly increased in adulthood relative to that in heterozygous controls

♂ • expression of other acrosome formation-associated genes (Spaca1 and Pick1) is significantly downregulated, indicating acrosome malformation during spermatogenesis

abnormal sperm nucleus morphology ( J:237643 )

♂ • although spermatids exhibit morphologically normal nuclei in the Golgi and cap phases, nuclei remain round shaped in the acrosome and maturation phases, unlike in heterozygous controls

decreased sperm progressive motility ( J:237643 )

♂ • in adult mice, % of linear motile sperm is significantly lower than that in heterozygous controls

asthenozoospermia ( J:237643 )

♂ • in adult mice, % of motile and linear motile sperm is significantly lower than that in heterozygous controls