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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tmc7em1Zjl
endonuclease-mediated mutation 1, Zhaojian Liu
MGI:7787153
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tmc7em1Zjl/Tmc7em1Zjl C57BL/6J-Tmc7em1Zjl MGI:7787159


Genotype
MGI:7787159
hm1
Allelic
Composition
Tmc7em1Zjl/Tmc7em1Zjl
Genetic
Background
C57BL/6J-Tmc7em1Zjl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmc7em1Zjl mutation (0 available); any Tmc7 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• fragmented and malformed acrosomes are seen in all four phases of spermatids
• absent or fragmented acrosomes are seen in spermatids from the cauda epididymis
• spermatids exhibit abnormal acrosome morphology as early as the Golgi phase
• colocalized GOPC and PNA in spermatids is decreased, indicating impaired transport and fusion of the proacrosomal vesicles during acrosome biogenesis
• intracellular calcium concentration is reduced in germ cells isolated from PD21 and PD30 testes and intracellular pH is increased, indicating that the pH and ion homeostasis is impaired
• reactive oxygen species (ROS) are increased in male germ cells
• ER stress-related proteins are increased in 3- and 9-week-old testes
• TUNEL-positive cells in seminiferous tubules and cauda epididymis are increased in 9-week-old, but not at 3 weeks of age, mice, indicating spermatid apoptosis
• severe defects in spermiogenesis
• large vesicles accumulate adjacent to developing acrosomes in all phases of acrosome biogenesis, starting from the Golgi phase in the spermatids
• abnormal acrosome structures and defective nuclear condensation are seen in spermatids
• Golgi apparatus fragmentation and disorganization
• the aspect ratio (height over width) of the Golgi apparatuses in spermatids are smaller
• Golgi body fails to correctly orient toward the acrosome
• Golgi stress markers are increased

cellular
• fragmented and malformed acrosomes are seen in all four phases of spermatids
• absent or fragmented acrosomes are seen in spermatids from the cauda epididymis
• spermatids exhibit abnormal acrosome morphology as early as the Golgi phase
• colocalized GOPC and PNA in spermatids is decreased, indicating impaired transport and fusion of the proacrosomal vesicles during acrosome biogenesis
• intracellular calcium concentration is reduced in germ cells isolated from PD21 and PD30 testes and intracellular pH is increased, indicating that the pH and ion homeostasis is impaired
• reactive oxygen species (ROS) are increased in male germ cells
• ER stress-related proteins are increased in 3- and 9-week-old testes
• TUNEL-positive cells in seminiferous tubules and cauda epididymis are increased in 9-week-old, but not at 3 weeks of age, mice, indicating spermatid apoptosis

endocrine/exocrine glands





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory