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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbc1d21tm1.1Yhln
targeted mutation 1.1, Ying-Hung Lin
MGI:6693639
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbc1d21tm1.1Yhln/Tbc1d21tm1.1Yhln involves: C57BL/6 MGI:6827290


Genotype
MGI:6827290
hm1
Allelic
Composition
Tbc1d21tm1.1Yhln/Tbc1d21tm1.1Yhln
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbc1d21tm1.1Yhln mutation (0 available); any Tbc1d21 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• female fertility is normal
• at 3 months of age, testes, epididymis and vas deferens weights are normal, and testis histology appears qualitatively unaffected
• sperm count is reduced in the epididymes and vas deferens relative to that in wild-type controls
• ~98% of sperm from 2-month-old males display abnormal morphology versus ~15% in wild-type males
• sperm from 2-month-old males show major sperm tail defects, with ~54% displaying obvious breakage
• % of tail-defective sperm is ~25% in the caput epididymis, ~75% in the cauda epididymis and >75% in the vans deferens, indicating that sperm defects originate during spermatogenesis but become exacerbated during epididymal maturation
• however, sperm tail length is normal
• large parts of sperm exhibit disorganized outer dense fibers (ODFs)
• large parts of sperm exhibit a disrupted axoneme structure
• TBC1D21 interactors TOMM20 (a subunit protein of translocase in the outer membrane of mitochondria) and DNAH7 (an inner arm component of the sperm tail axoneme) are found to detach and disperse outside the axoneme, instead of aligning with the axoneme as in wild-type sperm
• sperm midpiece morphology is severely disrupted, and midpiece length is significantly reduced
• however, sperm annulus structure and function remain intact
• mitochondria are missing or present as a thickened layer in some areas of the midpiece region
• in the sperm midpiece region, mitochondria exhibit an irregular arrangement, abnormal diameter, and structural defects
• in the sperm midpiece region, the area and perimeter of mitochondria are increased whereas the circularity of mitochondria is decreased
• EM showed defects in sperm mitochondria including disorganized arrangement/dislocalization, abnormal diameters, reduced number of mitochondria, or even loss of mitochondrial materials
• male mice are completely sterile when mated with wild-type female mice
• sperm show a significant reduction in ATP levels
• sperm from 2-month-old males exhibit reduced progressive motility

cellular
• sperm count is reduced in the epididymes and vas deferens relative to that in wild-type controls
• ~98% of sperm from 2-month-old males display abnormal morphology versus ~15% in wild-type males
• sperm from 2-month-old males show major sperm tail defects, with ~54% displaying obvious breakage
• % of tail-defective sperm is ~25% in the caput epididymis, ~75% in the cauda epididymis and >75% in the vans deferens, indicating that sperm defects originate during spermatogenesis but become exacerbated during epididymal maturation
• however, sperm tail length is normal
• large parts of sperm exhibit disorganized outer dense fibers (ODFs)
• large parts of sperm exhibit a disrupted axoneme structure
• TBC1D21 interactors TOMM20 (a subunit protein of translocase in the outer membrane of mitochondria) and DNAH7 (an inner arm component of the sperm tail axoneme) are found to detach and disperse outside the axoneme, instead of aligning with the axoneme as in wild-type sperm
• sperm midpiece morphology is severely disrupted, and midpiece length is significantly reduced
• however, sperm annulus structure and function remain intact
• mitochondria are missing or present as a thickened layer in some areas of the midpiece region
• in the sperm midpiece region, mitochondria exhibit an irregular arrangement, abnormal diameter, and structural defects
• in the sperm midpiece region, the area and perimeter of mitochondria are increased whereas the circularity of mitochondria is decreased
• EM showed defects in sperm mitochondria including disorganized arrangement/dislocalization, abnormal diameters, reduced number of mitochondria, or even loss of mitochondrial materials
• in the sperm midpiece region, the area and perimeter of mitochondria are increased whereas the circularity of mitochondria is decreased
• in the sperm midpiece region, the number of sperm mitochondria is reduced
• sperm from 2-month-old males exhibit reduced progressive motility





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory