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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
AU040320tm1b(EUCOMM)Wtsi
targeted mutation 1b, Wellcome Trust Sanger Institute
MGI:6111779
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
AU040320tm1b(EUCOMM)Wtsi/AU040320tm1b(EUCOMM)Wtsi involves: C57BL/6J * C57BL/6N MGI:6867826


Genotype
MGI:6867826
hm1
Allelic
Composition
AU040320tm1b(EUCOMM)Wtsi/AU040320tm1b(EUCOMM)Wtsi
Genetic
Background
involves: C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
AU040320tm1b(EUCOMM)Wtsi mutation (0 available); any AU040320 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• females do not exhibit any obvious fertility abnormalities
• testes appear morphologically normal with no significant alterations in average testis size or weight; overall structure of seminiferous tubules and epididymides is largely normal
• sperm midpiece is often disarranged
• however, the flagellar axoneme shows a normal 9 + 2 microtubular structure, with dynein arms clearly visible
• the typical compact and structured sheath extending from the nucleus observed in wild-type controls is missing
• severe mitochondrial dysplasia is often observed
• many epididymal sperm tails are found coiled around the sperm head
• number of spermatozoa released from the cauda epididymis is significantly reduced
• although spermatids do not develop an acrosome, a pseudoacrosome-like structure consisting of saccules organized in a multi-layered fashion is occasionally observed in close proximity to the acroplaxome at the cap/acrosome phases
• acrosome biogenesis is disrupted as early as in the Golgi phase, with spermatids showing a less uniform and sparser PNA staining with no formation of a single homogeneous structure
• in the cap phase, spermatids show a punctate PNA staining along the nuclear surface rather than the typical cap-like layer enveloping the nucleus seen in wild-type cells
• in the acrosome phase, PNA staining appears disarranged and absent in many cases; a similar pattern is also seen in the maturation phase
• in round spermatids, proacrosomal vesicles accumulate close to the acroplaxome but fail to coalesce into a single acrosomal vesicle
• failure of proacrosomal vesicles to fuse is likely to result from some defect that precedes the fusion events, such as in the processing and formation of vesicles
• all epididymal spermatozoa exhibit a malformed roundish head
• all round-headed spermatozoa lack an acrosome
• all epididymal spermatozoa exhibit a rounded nuclear shape
• all epididymal spermatozoa exhibit a smaller head size
• although some motile cells are observed, motility of epididymal spermatozoa is largely absent
• epididymal spermatozoa are mostly immotile
• round-headed spermatozoa that lack an acrosome are observed during the early stages of spermatid differentiation
• however, meiotic progression of spermatocytes and chromatid recombination during meiosis are largely normal
• males are infertile despite the presence of vaginal plugs in females

cellular
• sperm midpiece is often disarranged
• however, the flagellar axoneme shows a normal 9 + 2 microtubular structure, with dynein arms clearly visible
• the typical compact and structured sheath extending from the nucleus observed in wild-type controls is missing
• severe mitochondrial dysplasia is often observed
• many epididymal sperm tails are found coiled around the sperm head
• number of spermatozoa released from the cauda epididymis is significantly reduced
• although spermatids do not develop an acrosome, a pseudoacrosome-like structure consisting of saccules organized in a multi-layered fashion is occasionally observed in close proximity to the acroplaxome at the cap/acrosome phases
• acrosome biogenesis is disrupted as early as in the Golgi phase, with spermatids showing a less uniform and sparser PNA staining with no formation of a single homogeneous structure
• in the cap phase, spermatids show a punctate PNA staining along the nuclear surface rather than the typical cap-like layer enveloping the nucleus seen in wild-type cells
• in the acrosome phase, PNA staining appears disarranged and absent in many cases; a similar pattern is also seen in the maturation phase
• in round spermatids, proacrosomal vesicles accumulate close to the acroplaxome but fail to coalesce into a single acrosomal vesicle
• failure of proacrosomal vesicles to fuse is likely to result from some defect that precedes the fusion events, such as in the processing and formation of vesicles
• all epididymal spermatozoa exhibit a malformed roundish head
• all round-headed spermatozoa lack an acrosome
• all epididymal spermatozoa exhibit a rounded nuclear shape
• all epididymal spermatozoa exhibit a smaller head size
• although some motile cells are observed, motility of epididymal spermatozoa is largely absent
• epididymal spermatozoa are mostly immotile





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