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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cd59btm1Jha
targeted mutation 1, Jose A Halperin
MGI:2653298
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cd59btm1Jha/Cd59btm1Jha involves: 129/Sv * C57BL/6 MGI:2653299


Genotype
MGI:2653299
hm1
Allelic
Composition
Cd59btm1Jha/Cd59btm1Jha
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd59btm1Jha mutation (0 available); any Cd59b mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• male homozygotes were fertile until ~5 months of age; thereafter, mutant males began to progressively lose fertility and eventually became infertile

hematopoietic system
• homozygotes displayed hemolytic anemia with spontaneous platelet activation
• mutant erythrocytes were more sensitive to complement-induced lysis relative to wild-type
• FACS analysis revealed an 8-fold increase in the shedding of platelet microparticles, indicating platelet activation; electron microscopy confirmed the formation of stubby and elongated filopodia and platelet aggregation

homeostasis/metabolism
N
• at 6 months of age, male homozygotes showed no significant differences in serum FSH, LH, and testosterone levels relative to wild-type controls
• FACS analysis revealed an 8-fold increase in the shedding of platelet microparticles, indicating platelet activation; electron microscopy confirmed the formation of stubby and elongated filopodia and platelet aggregation

renal/urinary system

reproductive system
N
• male homozygotes exhibited normal sexual behavior toward females and generated copulation plugs independently of their age (J:82330)
• at 3 months of age, mutant epididymal sperm exhibited normal capacitation-dependent tyrosine phosphorylation and ionophore-induced acrosome reaction relative to wild-type controls (J:108100)
• starting at 3 months of age, male homozygotes displayed a progressive decline in the % of viable sperm
• by 6 months of age, the % of motile and viable sperm was significantly decreased, whereas the % of abnormal sperm heads was significantly increased
• histology demonstrated loss of spermatozoid's head and multinucleated cells with increased cytoplasm relative to wild-type
• cresyl violet-stained sperm smears revealed a significant reduction in the number of spermatozoids in infertile males (J:82330)
• at 3 months of age, male homozygotes showed a 2.5-fold reduction in the number of motile and live sperm obtained by the swim-out method from the epididymis relative to wild-type controls (J:108100)
• by 6 months of age, male homozygotes displayed a significant decrease in the total number of sperm relative to wild-type controls (J:108100)
• starting at 3 months of age, male homozygotes displayed a significantly higher % of abnormal sperm heads than wild-type controls
• detached sperm heads were frequently observed at 6 months of age
• at 6 months of age, male homozygotes displayed a significantly higher number of apoptotic (TUNEL-positive) germ cells in seminiferous tubules than age-matched wild-type controls
• almost all sperm cells from infertile mutant males were immobile
• in some instances, one or two sperm cells exhibited contraction-like movements without displacement
• at 6 and 10 months of age, 33% of male homozygotes displayed abnormal multinucleated cells and significantly more apoptotic cells within the walls of seminiferous tubules
• however, no signs of testicular atrophy, inflammation or of increased complement deposition were observed
• male homozygotes were fertile until ~5 months of age; thereafter, mutant males began to progressively lose fertility and eventually became infertile
• by 8 months of age, only 20% of male homozygotes were still fertile; however, these males generated a smaller litter size of no more than two pups per wild-type female

endocrine/exocrine glands
• at 6 and 10 months of age, 33% of male homozygotes displayed abnormal multinucleated cells and significantly more apoptotic cells within the walls of seminiferous tubules
• however, no signs of testicular atrophy, inflammation or of increased complement deposition were observed

cellular
• starting at 3 months of age, male homozygotes displayed a progressive decline in the % of viable sperm
• by 6 months of age, the % of motile and viable sperm was significantly decreased, whereas the % of abnormal sperm heads was significantly increased
• histology demonstrated loss of spermatozoid's head and multinucleated cells with increased cytoplasm relative to wild-type
• cresyl violet-stained sperm smears revealed a significant reduction in the number of spermatozoids in infertile males (J:82330)
• at 3 months of age, male homozygotes showed a 2.5-fold reduction in the number of motile and live sperm obtained by the swim-out method from the epididymis relative to wild-type controls (J:108100)
• by 6 months of age, male homozygotes displayed a significant decrease in the total number of sperm relative to wild-type controls (J:108100)
• starting at 3 months of age, male homozygotes displayed a significantly higher % of abnormal sperm heads than wild-type controls
• detached sperm heads were frequently observed at 6 months of age
• at 6 months of age, male homozygotes displayed a significantly higher number of apoptotic (TUNEL-positive) germ cells in seminiferous tubules than age-matched wild-type controls
• almost all sperm cells from infertile mutant males were immobile
• in some instances, one or two sperm cells exhibited contraction-like movements without displacement





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory