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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbpl1tm1Rgr
targeted mutation 1, Robert G Roeder
MGI:2181639
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbpl1tm1Rgr/Tbpl1tm1Rgr involves: C57BL/6 MGI:2668075


Genotype
MGI:2668075
hm1
Allelic
Composition
Tbpl1tm1Rgr/Tbpl1tm1Rgr
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbpl1tm1Rgr mutation (0 available); any Tbpl1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• no mature spermatozoa are detected in semen samples from the vas deferens and epididymis at 8 weeks of age
• spermatids from both adult and juvenile (22-26 days of age) male homozygotes display aberrant acrosome structures
• testes from both adult and juvenile (22-26 days of age) male homozygotes show complete absence of elongated spermatids
• round spermatids are arrested at different stages during spermiogenesis, as evidenced by aberrant acrosome structures, and undergo apoptosis
• mutant round spermatids undergo apoptosis, as revealed by TUNEL staining
• in juvernile homozygotes, the number of apoptotic cells increases significantly at day 28 after birth and beyond
• at stage 6, seminiferous tubules from both adult and juvenile homozygotes display total absence of elongated spermatids or spermatozoa and large vacuolar structures
• adult male homozygotes show a 20%-30% reduction in the diameter of seminiferous tubules relative to wild-type males
• at stage 9, some mutant tubules exhibit degenerating cells with abnormal nuclear structures as well as typical multinucleated giant apoptotic cells
• at 8 weeks of age, male homozygotes show a 50% reduction in testicular size relative to control males
• however, serum testosterone levels remain unaffected at this age
• at 7-9 weeks of age, male homozygotes show a 50% reduction in testicular weight relative to control males
• postmeiotic round spermatids advance at most to stage 7 but fail to undergo morphological differentiation and development into elongated spermatids
• arrest of spermiogenesis is associated with reduced expression of several postmeiotically transcribed testis-specific genes in both adult and juvenile testis
• male homozygotes copulate normally but fail to sire offspring
• in contrast, female homozygotes are fertile and produce normal average litter sizes

endocrine/exocrine glands
• at stage 6, seminiferous tubules from both adult and juvenile homozygotes display total absence of elongated spermatids or spermatozoa and large vacuolar structures
• adult male homozygotes show a 20%-30% reduction in the diameter of seminiferous tubules relative to wild-type males
• at stage 9, some mutant tubules exhibit degenerating cells with abnormal nuclear structures as well as typical multinucleated giant apoptotic cells
• at 8 weeks of age, male homozygotes show a 50% reduction in testicular size relative to control males
• however, serum testosterone levels remain unaffected at this age
• at 7-9 weeks of age, male homozygotes show a 50% reduction in testicular weight relative to control males

cellular
• no mature spermatozoa are detected in semen samples from the vas deferens and epididymis at 8 weeks of age
• spermatids from both adult and juvenile (22-26 days of age) male homozygotes display aberrant acrosome structures
• testes from both adult and juvenile (22-26 days of age) male homozygotes show complete absence of elongated spermatids
• round spermatids are arrested at different stages during spermiogenesis, as evidenced by aberrant acrosome structures, and undergo apoptosis
• mutant round spermatids undergo apoptosis, as revealed by TUNEL staining
• in juvernile homozygotes, the number of apoptotic cells increases significantly at day 28 after birth and beyond





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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
04/16/2024
MGI 6.23
The Jackson Laboratory