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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ndufa13em1Nju
endonuclease-mediated mutation 1, Model Animal Research Center of Nanjing University
MGI:7314467
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ndufa13em1Nju/Ndufa13em1Nju C57BL/6-Ndufa13em1Nju MGI:7314485
ht2
 		Ndufa13em1Nju/Ndufa13+ C57BL/6-Ndufa13em1Nju MGI:7314486


Genotype
MGI:7314485
hm1
Allelic
Composition		 Ndufa13em1Nju/Ndufa13em1Nju
Genetic
Background		 C57BL/6-Ndufa13em1Nju
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndufa13em1Nju mutation (0 available); any Ndufa13 mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality, complete penetrance ( J:326065 )
• died in the early stage of embryonic development




Genotype
MGI:7314486
ht2
Allelic
Composition		 Ndufa13em1Nju/Ndufa13+
Genetic
Background		 C57BL/6-Ndufa13em1Nju
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndufa13em1Nju mutation (0 available); any Ndufa13 mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reproductive system phenotype ( J:326065 )
N
• male mice exhibit normal relative testicular shape and weight and sperm morphology compared with wild-type males
oligozoospermia ( J:326065 )
• sperm count is significantly lower than that in wild-type males
increased male germ cell apoptosis ( J:326065 )
• annexin V-FITC analysis of spermatozoa samples showed a significant increase in apoptotic cells relative to wild-type cells
abnormal testis morphology ( J:326065 )
• the intercellular space in testis tissue is larger than in controls testes
abnormal seminiferous tubule morphology ( J:326065 )
• spermatogenic cells of all levels are sparsely arranged in the lumen of seminiferous tubules
abnormal testis physiology ( J:326065 )
• testes show significantly reduced protein expression of key steroidogenic proteins such as STAR, CYP11A1 and HSD3B
• in vitro, isolated Leydig cells show significantly reduced expression of testicular biosynthesis proteins such as STAR, CYP11A1 and HSD3B
abnormal sperm physiology ( J:326065 )
• sperm show a significantly reduced mitochondrial membrane potential relative to wild-type cells
decreased sperm progressive motility ( J:326065 )
• sperm progressive motility is significantly lower than that in wild-type males
asthenozoospermia ( J:326065 )
• total sperm motility is significantly lower than that in wild-type males

cellular
oligozoospermia ( J:326065 )
• sperm count is significantly lower than that in wild-type males
increased male germ cell apoptosis ( J:326065 )
• annexin V-FITC analysis of spermatozoa samples showed a significant increase in apoptotic cells relative to wild-type cells
decreased sperm progressive motility ( J:326065 )
• sperm progressive motility is significantly lower than that in wild-type males
asthenozoospermia ( J:326065 )
• total sperm motility is significantly lower than that in wild-type males
abnormal mitochondrial physiology ( J:326065 )
• sperm show a significantly reduced mitochondrial membrane potential relative to wild-type cells
oxidative stress ( J:326065 )
• spermatozoa show a significant increase in intracellular reactive oxygen species (ROS) production relative to wild-type cells

homeostasis/metabolism
decreased circulating testosterone level ( J:326065 )
• serum testosterone level is significantly lower than that in wild-type males

endocrine/exocrine glands
abnormal testis morphology ( J:326065 )
• the intercellular space in testis tissue is larger than in controls testes
abnormal seminiferous tubule morphology ( J:326065 )
• spermatogenic cells of all levels are sparsely arranged in the lumen of seminiferous tubules
abnormal testis physiology ( J:326065 )
• testes show significantly reduced protein expression of key steroidogenic proteins such as STAR, CYP11A1 and HSD3B
• in vitro, isolated Leydig cells show significantly reduced expression of testicular biosynthesis proteins such as STAR, CYP11A1 and HSD3B




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Send questions and comments to User Support. 		last database update
11/12/2024
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