Phenotypes associated with this allele

• Allele Symbol: Cops5^tm1Rpar
• Allele Name: targeted mutation 1, Ruggero Pardi
• Allele ID: MGI:3775801
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cops5^tm1Rpar/Cops5^tm1Rpar	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3783469
cn2	Cops5^tm1Rpar/Cops5^tm1Rpar Tg(Lck-cre)548Jxm/0 Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129 * C57BL/6 * CBA * SJL	MGI:3783542
cn3	Cops5^tm1Rpar/Cops5^tm1Rpar Tg(Stra8-icre)1Reb/0	involves: 129 * C57BL/6 * FVB/NJ * SJL	MGI:6858076
cn4	Cops5^tm1Rpar/Cops5^tm1Rpar Tg(Lck-cre)548Jxm/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL	MGI:3783540
cn5	Cops5^tm1Rpar/Cops5^tm1Rpar Tg(Lck-cre)548Jxm/0 Tg(TcraTcrb)425Cbn/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL	MGI:3783541

Genotype
MGI:3783469

hm1

• Allelic Composition: Cops5^tm1Rpar/Cops5^tm1Rpar
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:132114 )

• homozygous mice developed normally with unperturbed Cops5 expression

Genotype
MGI:3783542

cn2

• Allelic Composition: Cops5^tm1Rpar/Cops5^tm1Rpar; Tg(Lck-cre)548Jxm/0; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129 * C57BL/6 * CBA * SJL

hematopoietic system

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control showing no rescue of the reduced thymic cellularity resulting from Cops5 deficiency

immune system

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control showing no rescue of the reduced thymic cellularity resulting from Cops5 deficiency

endocrine/exocrine glands

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control showing no rescue of the reduced thymic cellularity resulting from Cops5 deficiency

Genotype
MGI:6858076

cn3

• Allelic Composition: Cops5^tm1Rpar/Cops5^tm1Rpar; Tg(Stra8-icre)1Reb/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/NJ * SJL

reproductive system

increased male germ cell apoptosis ( J:307573 )

♂ • TUNEL staining revealed a dramatic increase in the presence of apoptotic germ cells in the seminiferous tubules

♂ • Western blot analysis showed that PARP1 and FANK1 expression levels are dramatically reduced, whereas Caspase-3 expression level is significantly increased

asthenozoospermia ( J:307573 )

♂ • less than 10% of sperm are motile; however, their curvilinear velocity is significantly reduced

immotile sperm ( J:307573 )

♂ • most sperm display no mobility

abnormal seminiferous tubule morphology ( J:307573 )

♂ • seminiferous tubule structure is totally disrupted

abnormal seminiferous tubule epithelium morphology ( J:307573 )

♂ • large vacuoles are present in the epithelium and these are likely the spaces remaining after Sertoli cell phagocytosis of apoptotic cells

abnormal ectoplasmic specialization morphology ( J:307573 )

♂

small testis ( J:307573 )

♂ • adult testis size is markedly reduced

decreased testis weight ( J:307573 )

♂ • testis weight and testis weight/body weight are reduced to about one third of controls

abnormal spermatogenesis ( J:307573 )

♂ • spermatogenesis is severely impaired: a number of degenerating germ cells are observed in the lumen of the seminiferous epithelium, with very few developed elongated spermatids

♂ • round bodies (possibly sloughed germ cells) and cellular debris are seen in the cauda epididymis lumen

oligozoospermia ( J:307573 )

♂ • cauda epididymal sperm counts are severely reduced

teratozoospermia ( J:307573 )

♂ • >80% of sperm exhibit abnormal morphology

abnormal acrosome assembly ( J:307573 )

♂ • few surviving spermatids exhibit little to no staining with acrosome marker peanut-lectin (PNA) while expression level of SPACA1 (another acrosomal component) is significantly reduced

♂ • testicular IFT20 expression level is significantly reduced; although IFT20 is still found in the Golgi apparatus of spermatocytes, it is no longer localized in the acrosome of round spermatids and, instead, it is present as individual vesicles in the cytoplasm

♂ • acrosome formation is absent in most round spermatids; in other spermatids, an abnormal acrosome is formed, or a very thin acrosome is attached to the Sertoli cell membrane by an abnormal ectoplasmic specialization

abnormal sperm nucleus morphology ( J:307573 )

♂ • few germ cells that develop into elongating spermatids exhibit abnormal nuclear structures

abnormal spermatid morphology ( J:307573 )

♂ • few germ cells that develop into elongating spermatids exhibit abnormal nuclei

decreased elongated spermatid number ( J:307573 )

♂ • elongating spermatids are rarely observed

male infertility ( J:307573 )

♂ • when bred with adult wild-type females of known fertility, none of the 6-wk-old or adult males tested sired any pups/litters during a 2-month breeding period, indicating complete male sterility

♂ • however, mating behavior and vaginal plug formation are normal

cellular

oligozoospermia ( J:307573 )

♂ • cauda epididymal sperm counts are severely reduced

teratozoospermia ( J:307573 )

♂ • >80% of sperm exhibit abnormal morphology

abnormal acrosome assembly ( J:307573 )

♂ • few surviving spermatids exhibit little to no staining with acrosome marker peanut-lectin (PNA) while expression level of SPACA1 (another acrosomal component) is significantly reduced

♂ • testicular IFT20 expression level is significantly reduced; although IFT20 is still found in the Golgi apparatus of spermatocytes, it is no longer localized in the acrosome of round spermatids and, instead, it is present as individual vesicles in the cytoplasm

♂ • acrosome formation is absent in most round spermatids; in other spermatids, an abnormal acrosome is formed, or a very thin acrosome is attached to the Sertoli cell membrane by an abnormal ectoplasmic specialization

abnormal sperm nucleus morphology ( J:307573 )

♂ • few germ cells that develop into elongating spermatids exhibit abnormal nuclear structures

abnormal spermatid morphology ( J:307573 )

♂ • few germ cells that develop into elongating spermatids exhibit abnormal nuclei

decreased elongated spermatid number ( J:307573 )

♂ • elongating spermatids are rarely observed

increased male germ cell apoptosis ( J:307573 )

♂ • TUNEL staining revealed a dramatic increase in the presence of apoptotic germ cells in the seminiferous tubules

♂ • Western blot analysis showed that PARP1 and FANK1 expression levels are dramatically reduced, whereas Caspase-3 expression level is significantly increased

asthenozoospermia ( J:307573 )

♂ • less than 10% of sperm are motile; however, their curvilinear velocity is significantly reduced

immotile sperm ( J:307573 )

♂ • most sperm display no mobility

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:307573 )

♂ • seminiferous tubule structure is totally disrupted

abnormal seminiferous tubule epithelium morphology ( J:307573 )

♂ • large vacuoles are present in the epithelium and these are likely the spaces remaining after Sertoli cell phagocytosis of apoptotic cells

abnormal ectoplasmic specialization morphology ( J:307573 )

♂

small testis ( J:307573 )

♂ • adult testis size is markedly reduced

decreased testis weight ( J:307573 )

♂ • testis weight and testis weight/body weight are reduced to about one third of controls

Genotype
MGI:3783540

cn4

• Allelic Composition: Cops5^tm1Rpar/Cops5^tm1Rpar; Tg(Lck-cre)548Jxm/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

hematopoietic system

increased T cell apoptosis ( J:132114 )

• in DN and DP thymocytes

thymus medulla hypoplasia ( J:132114 )

• a severely hypoplastic medulla

decreased thymocyte number ( J:132114 )

• an 80-90% reduction

decreased double-positive T cell number ( J:132114 )

• a marked decrease in the proportion of DP and SP thymocytes

• DN thymocytes percentage and absolute numbers were not significantly altered

decreased single-positive T cell number ( J:132114 )

• a marked decrease in the proportion of DP and SP thymocytes

immune system

increased T cell apoptosis ( J:132114 )

• in DN and DP thymocytes

thymus medulla hypoplasia ( J:132114 )

• a severely hypoplastic medulla

decreased thymocyte number ( J:132114 )

• an 80-90% reduction

decreased double-positive T cell number ( J:132114 )

• a marked decrease in the proportion of DP and SP thymocytes

• DN thymocytes percentage and absolute numbers were not significantly altered

decreased single-positive T cell number ( J:132114 )

• a marked decrease in the proportion of DP and SP thymocytes

cellular

abnormal cell cycle checkpoint function ( J:132114 )

• cell cycle arrest at S/G2/M phase in DN thymocyte

increased T cell apoptosis ( J:132114 )

• in DN and DP thymocytes

endocrine/exocrine glands

thymus medulla hypoplasia ( J:132114 )

• a severely hypoplastic medulla

decreased thymocyte number ( J:132114 )

• an 80-90% reduction

Genotype
MGI:3783541

cn5

• Allelic Composition: Cops5^tm1Rpar/Cops5^tm1Rpar; Tg(Lck-cre)548Jxm/0; Tg(TcraTcrb)425Cbn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

hematopoietic system

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control

immune system

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control

endocrine/exocrine glands

decreased thymocyte number ( J:132114 )

• an 80-90% reduction compared to control