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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Csnk2a2tm1Dcs
targeted mutation 1, David C Seldin
MGI:2182135
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Csnk2a2tm1Dcs/Csnk2a2tm1Dcs involves: 129S6/SvEvTac * C57BL/6 MGI:2451166


Genotype
MGI:2451166
hm1
Allelic
Composition
Csnk2a2tm1Dcs/Csnk2a2tm1Dcs
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csnk2a2tm1Dcs mutation (1 available); any Csnk2a2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• at P28 (first spermatogenesis wave), some spermatogonia display a swollen clear cytoplasm
• the frequency of spermatogonia with highly condensed nuclei is increased
• mutant testes exhibit increased numbers of apoptotic germ cells, as well as a variety of apoptotic cell types including spermatocytes and round spermatids, as revealed by TUNEL staining
• male homozygotes exhibit occasional kinked or bent sperm flagella, resulting in uncoordinated sperm motility
• extensive germ cell degenerative processes are detected at all stages of spermatogenesis, including the first spermatogenesis wave
• nuclear envelope protrusions with loss of nuclear pores, swelling of the outer membrane, and disruption of the inner membrane are observed in cells ranging from spermatogonia to early spermatids
• male homozygotes display a >70% reduction in the number of epididymal spermatozoa relative to controls (J:57312)
• oligospermia is partly attributed to failure of spermatozoa release and Sertoli cell phagocytosis (J:57312)
• only a small number of spermatozoa are found in the lumen of the epididymis (J:85522)
• all surviving spermatozoa appear abnormal, as are spermatozoa released from the epididymis
• epididymal spermatozoa frequently display a coiled flagellum
• mutant sperm flagella are occasionally bent or kinked (J:57312)
• epididymal spermatozoa frequently display a bent flagellum (J:85522)
• starting at late step 9, elongating spermatids display deformation of the anterior sperm head
• some spermatids display a vacuolized acrosome
• elongating spermatids undergo normal chromatin condensation but display breaks or defects in the nuclear cap
• by the time of release into the epididymis, all surviving mutant spermatozoa fail to assume a hooked shape typical of wild-type spermatozoa, and appear round or ovoid
• as germ cells mature, many acrosomes become detached from the sperm nucleus and appear discontinuous in cross section (J:57312)
• in many mature spermatids, a large space separates the acrosome from the nucleus (J:85522)
• in step 9, many elongating spermatids develop nuclei that are deformed and indented with the acrosome or sometimes with projections of the surrounding Sertoli cells
• by the time of release into the epididymis, some spontaneous decondensation of nuclear chromatin, similar to that induced by chemical agents, is observed
• starting at late step 9, elongating spermatids exhibit abnormalities of the acrosome-covered (anterior) head while posterior structures remain normal (J:57312)
• most post-meiotic round spermatids are deleted in the seminiferous tubule lumen (J:85522)
• discarded round spermatids exhibit a clear space alongside the nucleus (J:85522)
• in adult testes, many spermatids show large clear areas in the nucleus and/or the cytoplasm; fewer spermatids show these alterations at the first wave of spermatogenesis (J:85522)
• spermatids that are not eliminated retain nuclear envelope defects (J:85522)
• DNA-specific fluorescent staining of round spermatids revealed a large chromatin-free nuclear region near the chromocenter, while a layer of condensed chromatin accumulates on the inner surface of the nuclear envelope, except in a small region facing the nuclear cavitation (J:85522)
• at P28, spermatocytes I contain large juxtanuclear clear areas
• degenerating metaphase spermatocytes I are frequently present
• mature spermatids that escape sloughing display poorly elongated nucleus, flagellar angulation, and incomplete cytoplasm elimination
• male, but not female, homozygotes are infertile

cellular
• male homozygotes display a >70% reduction in the number of epididymal spermatozoa relative to controls (J:57312)
• oligospermia is partly attributed to failure of spermatozoa release and Sertoli cell phagocytosis (J:57312)
• only a small number of spermatozoa are found in the lumen of the epididymis (J:85522)
• all surviving spermatozoa appear abnormal, as are spermatozoa released from the epididymis
• epididymal spermatozoa frequently display a coiled flagellum
• mutant sperm flagella are occasionally bent or kinked (J:57312)
• epididymal spermatozoa frequently display a bent flagellum (J:85522)
• starting at late step 9, elongating spermatids display deformation of the anterior sperm head
• some spermatids display a vacuolized acrosome
• elongating spermatids undergo normal chromatin condensation but display breaks or defects in the nuclear cap
• by the time of release into the epididymis, all surviving mutant spermatozoa fail to assume a hooked shape typical of wild-type spermatozoa, and appear round or ovoid
• as germ cells mature, many acrosomes become detached from the sperm nucleus and appear discontinuous in cross section (J:57312)
• in many mature spermatids, a large space separates the acrosome from the nucleus (J:85522)
• in step 9, many elongating spermatids develop nuclei that are deformed and indented with the acrosome or sometimes with projections of the surrounding Sertoli cells
• by the time of release into the epididymis, some spontaneous decondensation of nuclear chromatin, similar to that induced by chemical agents, is observed
• starting at late step 9, elongating spermatids exhibit abnormalities of the acrosome-covered (anterior) head while posterior structures remain normal (J:57312)
• most post-meiotic round spermatids are deleted in the seminiferous tubule lumen (J:85522)
• discarded round spermatids exhibit a clear space alongside the nucleus (J:85522)
• in adult testes, many spermatids show large clear areas in the nucleus and/or the cytoplasm; fewer spermatids show these alterations at the first wave of spermatogenesis (J:85522)
• spermatids that are not eliminated retain nuclear envelope defects (J:85522)
• DNA-specific fluorescent staining of round spermatids revealed a large chromatin-free nuclear region near the chromocenter, while a layer of condensed chromatin accumulates on the inner surface of the nuclear envelope, except in a small region facing the nuclear cavitation (J:85522)
• at P28, spermatocytes I contain large juxtanuclear clear areas
• degenerating metaphase spermatocytes I are frequently present
• at P28 (first spermatogenesis wave), some spermatogonia display a swollen clear cytoplasm
• the frequency of spermatogonia with highly condensed nuclei is increased
• mutant testes exhibit increased numbers of apoptotic germ cells, as well as a variety of apoptotic cell types including spermatocytes and round spermatids, as revealed by TUNEL staining
• male homozygotes exhibit occasional kinked or bent sperm flagella, resulting in uncoordinated sperm motility

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
male infertility DOID:12336 J:57312





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