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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap52em1Cya
endonuclease-mediated mutation 1, Cyagen Biosciences
MGI:7582946
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap52em1Cya/Cfap52em1Cya C57BL/6J-Cfap52em1Cya/Cya MGI:7712221


Genotype
MGI:7712221
hm1
Allelic
Composition
Cfap52em1Cya/Cfap52em1Cya
Genetic
Background
C57BL/6J-Cfap52em1Cya/Cya
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap52em1Cya mutation (1 available); any Cfap52 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 52% of mice exhibit severe hydrocephalus

mortality/aging
• the 52% of mice that exhibit severe hydrocephalus die within 2 months

reproductive system
• midpiece and principal piece junction is disorganized
• about 19.66% of spermatozoa from the caudal epididymis shows thinning near the annulus that normally connects the midpiece with the principal piece of the flagellum compared to 3.77% of wild-type spermatozoa
• the midpiece and principal piece of the sperm tail are disconnected
• the thinning region is axoneme solely enveloped by outer dense fibers
• however, sperm flagellar axonemes show normal 9+ 2 microtubular organization and tail accessory structures
• the length of the mitochondrial sheath in spermatozoa is shorter
• spermatozoa show low motility, with reduced path velocity, progressive velocity, and track speed
• however, males show normal spermatogenesis, with normal testis size and weight, normal seminiferous tubule structure and architecture, and normal sperm count
• dynein-driven microtubule sliding is disrupted in spermatozoa
• males fail to produce offspring even though they show normal mounting behaviors and produce coital plugs
• however, females are fertile

cellular
• midpiece and principal piece junction is disorganized
• about 19.66% of spermatozoa from the caudal epididymis shows thinning near the annulus that normally connects the midpiece with the principal piece of the flagellum compared to 3.77% of wild-type spermatozoa
• the midpiece and principal piece of the sperm tail are disconnected
• the thinning region is axoneme solely enveloped by outer dense fibers
• however, sperm flagellar axonemes show normal 9+ 2 microtubular organization and tail accessory structures
• the length of the mitochondrial sheath in spermatozoa is shorter
• spermatozoa show low motility, with reduced path velocity, progressive velocity, and track speed
• however, males show normal spermatogenesis, with normal testis size and weight, normal seminiferous tubule structure and architecture, and normal sperm count
• dynein-driven microtubule sliding is disrupted in spermatozoa





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory