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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ttc21aem1Fzh
endonuclease-mediated mutation 1, Feng Zhang
MGI:6368822
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ttc21aem1Fzh/Ttc21aem1Fzh involves: C57BL/6 MGI:6369061


Genotype
MGI:6369061
hm1
Allelic
Composition
Ttc21aem1Fzh/Ttc21aem1Fzh
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ttc21aem1Fzh mutation (0 available); any Ttc21a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• sperm show multiple morphological abnormalities
• only ~26.7% of spermatozoa appear normal versus 83.3% in wild-type males
• caudal epididymal spermatozoa show multiple flagella defects, including short, coiled flagella and/or tailless spermatozoa (abnormal head-tail conjunction)
• axonemal structural abnormalities including abnormal bulges, extra peripheral microtubule doublets, lack of central-pair microtubules, absent dynein arms, and abnormal arrangement of the 9 peripheral microtubule doublets are frequent
• absence of central-pair microtubules is frequently observed
• during nuclear condensation and the late elongated stage, connecting pieces are not formed properly or maintained in spermatids
• the segmented columns between the sperm head and tail appear scattered
• 32.6% of sperm show abnormal end pieces versus 2.3% in wild-type controls
• no midpiece could be formed without being surrounded by the mitochondria and having the annulus relocated, leading to an abnormal junction between the nucleus and the axoneme
• annulus appears scattered
• 17.2% of sperm show abnormal principle pieces versus 3.4% in wild-type controls
• 6.1% of flagella are coiled versus 2.0% in wild-type controls
• abnormal head-tail conjunction is the most frequently observed abnormality (60.7% versus 4.9% in wild-type males)
• 2.0% of sperm show flagellar angulation versus 0% in wild-type controls
• 10.5% of flagella are short versus 1.0% in wild-type controls
• progressive motility (%) is significantly lower than that in wild-type males (33% versus 74%, respectively)
• sperm motility (%) is significantly lower than that in wild-type males (39% versus 84%, respectively)
• structural abnormalities of the connecting piece are observed during spermiogenesis
• male homozygotes sire significantly smaller litters than wild-type males
• ~78% of males are infertile

cellular
• sperm show multiple morphological abnormalities
• only ~26.7% of spermatozoa appear normal versus 83.3% in wild-type males
• caudal epididymal spermatozoa show multiple flagella defects, including short, coiled flagella and/or tailless spermatozoa (abnormal head-tail conjunction)
• axonemal structural abnormalities including abnormal bulges, extra peripheral microtubule doublets, lack of central-pair microtubules, absent dynein arms, and abnormal arrangement of the 9 peripheral microtubule doublets are frequent
• absence of central-pair microtubules is frequently observed
• during nuclear condensation and the late elongated stage, connecting pieces are not formed properly or maintained in spermatids
• the segmented columns between the sperm head and tail appear scattered
• 32.6% of sperm show abnormal end pieces versus 2.3% in wild-type controls
• no midpiece could be formed without being surrounded by the mitochondria and having the annulus relocated, leading to an abnormal junction between the nucleus and the axoneme
• annulus appears scattered
• 17.2% of sperm show abnormal principle pieces versus 3.4% in wild-type controls
• 6.1% of flagella are coiled versus 2.0% in wild-type controls
• abnormal head-tail conjunction is the most frequently observed abnormality (60.7% versus 4.9% in wild-type males)
• 2.0% of sperm show flagellar angulation versus 0% in wild-type controls
• 10.5% of flagella are short versus 1.0% in wild-type controls
• progressive motility (%) is significantly lower than that in wild-type males (33% versus 74%, respectively)
• sperm motility (%) is significantly lower than that in wild-type males (39% versus 84%, respectively)





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory