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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hoatzem1Seta
endonuclease-mediated mutation 1, Sen Takeda
MGI:6416172
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hoatzem1Seta/Hoatzem1Seta B6N.Cg-Hoatzem1Seta MGI:6416174
ht2
Hoatzem1Seta/Hoatz+ B6N.Cg-Hoatzem1Seta MGI:6416175


Genotype
MGI:6416174
hm1
Allelic
Composition
Hoatzem1Seta/Hoatzem1Seta
Genetic
Background
B6N.Cg-Hoatzem1Seta
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoatzem1Seta mutation (1 available); any Hoatz mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 6 of 36 mice develop hydrocephalus rapidly and die before weaning

reproductive system
• all males exhibit oligo-astheno-terato-zoospermia
• caudal sperm density of sexually mature males is decreased significantly
• epididymal sperm exhibits severe morphological defects
• lack of fully developed sperm flagella in the lumen of the seminiferous tubules
• accessory structures such as the outer dense fibers, the fibrous sheath in the principal piece and the spiral mitochondria in the midpiece are infrequently seen and instead many abnormal vesicles are seen in the cytoplasm
• flagella of the spermatids undergoing cytodifferentiation often has abnormal fibrous materials resembling that of singlet microtubules, instead of the well-organized axoneme
• early-phase spermatids with round nuclei, long developing flagella with an intact axoneme without accessory structures are seen, indicating that spermatids elongate but do not maintain the axoneme
• spermatozoa do not have motile full-length flagella
• flagella of epididymal sperm is immotile

nervous system
• 28% of ependymal cilia of the brain ventricles show defects in the arrangement of the axonemal microtubules, with 22% showing outer doublet microtubule dislocations in which one or two outer doublets are displaced from the correct position, 3% lacking one doublet microtubule, and 1% showing extra doublet microtubules
• however, the central pair appears intact in ependymal cilia and structures of the basal bodies and the ciliary transition zone show no defects
• however, mice do not exhibit laterality defects, polydactyly, polycystic kidney, or other abdominal organ abnormalities indicating that nodal and primary cilia are not affected
• some ependyma shows very short or collapsed cilia and the cilia appears erect
• the amplitude of ciliary beating and the beating frequency are lower
• mice exhibit hydrocephalus of varying severity
• 6 of 36 mice develop hydrocephalus rapidly and die before weaning
• 4 of 5 mice develop ventriculomegaly without changes in the shape of the skull

respiratory system
• occasionally motile cilia in the tracheal epithelia exhibit ciliary membrane blebs
• however, motile cilia in the tracheal epithelia show an intact axoneme

endocrine/exocrine glands

cellular
• 28% of ependymal cilia of the brain ventricles show defects in the arrangement of the axonemal microtubules, with 22% showing outer doublet microtubule dislocations in which one or two outer doublets are displaced from the correct position, 3% lacking one doublet microtubule, and 1% showing extra doublet microtubules
• however, the central pair appears intact in ependymal cilia and structures of the basal bodies and the ciliary transition zone show no defects
• however, mice do not exhibit laterality defects, polydactyly, polycystic kidney, or other abdominal organ abnormalities indicating that nodal and primary cilia are not affected
• some ependyma shows very short or collapsed cilia and the cilia appears erect
• occasionally motile cilia in the tracheal epithelia exhibit ciliary membrane blebs
• however, motile cilia in the tracheal epithelia show an intact axoneme
• all males exhibit oligo-astheno-terato-zoospermia
• caudal sperm density of sexually mature males is decreased significantly
• epididymal sperm exhibits severe morphological defects
• lack of fully developed sperm flagella in the lumen of the seminiferous tubules
• accessory structures such as the outer dense fibers, the fibrous sheath in the principal piece and the spiral mitochondria in the midpiece are infrequently seen and instead many abnormal vesicles are seen in the cytoplasm
• flagella of the spermatids undergoing cytodifferentiation often has abnormal fibrous materials resembling that of singlet microtubules, instead of the well-organized axoneme
• early-phase spermatids with round nuclei, long developing flagella with an intact axoneme without accessory structures are seen, indicating that spermatids elongate but do not maintain the axoneme
• spermatozoa do not have motile full-length flagella
• flagella of epididymal sperm is immotile
• the amplitude of ciliary beating and the beating frequency are lower




Genotype
MGI:6416175
ht2
Allelic
Composition
Hoatzem1Seta/Hoatz+
Genetic
Background
B6N.Cg-Hoatzem1Seta
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoatzem1Seta mutation (1 available); any Hoatz mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females exhibit higher mortality rates due to obstructed labor

cellular
• sperm flagella are often mildly swollen, bent irregularly at the annulus, or both

reproductive system
N
• females and males are fertile
• sperm flagella are often mildly swollen, bent irregularly at the annulus, or both





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