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Allele Symbol Allele Name Allele ID |
Ehd1tm1.2Haba targeted mutation 1.2, Hamid Band MGI:4458098 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 11% instead of the expected 25% were homozygous at post-natal days 10-12
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Ehd1tm1.2Haba/Ehd1tm1.2Haba mice are small and males exhibit small testis
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• higher frequency (about 25%) of death at or near birth
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• 8% instead of the expected 25% are homozygous at post-natal days 10-12, when intercrossing heterozygous mice
• 29% (instead of 50% expected) of the mice survive to weaning age, when intercrossing heterozygous male with homozygous female mice
• several mice die due to unknown causes at age 3-4 weeks
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• females display malocclusion (22%)
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• homozygous mice that survive early neonatal lethality are smaller from birth to adulthood
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• lower weights in both male and female mice starting from 3 weeks of age
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• delay in the normal maturation of spermatogonia as analyzed by chromatin condensation and cell size at post-natal day 10
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• some seminiferous tubules contain a greater number of apoptotic-like dense bodies at post-natal day 10
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• Sertoli cell only seminiferous tubules at day 30
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• reduced testis weight starting from day 42, compared with wild-type mice
• normal seminal vesicle size
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• epididymides lack sperm at day 42, and continue into adulthood
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• abnormal acrosomal caps with asymmetric formations and punctate appearances at day 30
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• stage X seminiferous tubules have elongated spermatids with abnormal orientation, shape and chromatin condensation at day 30
• delay in the maturation of elongated spermatids with a mixture of spermatids (step 9, 10, and 11) at day 30
• a mixture of elongated spermatids (steps 9-11) as well as misaligned elongated spermatids near the basement membrane
• clumping of spermatid heads in addition to fusion of large aggregates of residual bodies and cytoplasmic lobes that contained clumped spermatids in late stage VIII
• clumping of step 16 spermatids in membranous wheels and near the basement membrane in stage X
• step 16 spermatids with their heads and tails fused
• cytoplasm of step 16 spermatids fails to form cytoplasmic lobes and residual bodies
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• delay in the normal maturation of pachytene spermatocytes as analyzed by chromatin condensation and cell size at post-natal day 10
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• stage XII seminiferous tubules display abnormal cells in meiosis at day 30
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• Sertoli cell phagocytosis of step 16 spermatids fails to be released
• clumping of spermatid heads in addition to fusion of large aggregates of residual bodies and cytoplasmic lobes that contained clumped spermatids in late stage VIII
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• failure of spermiation and clumping of spermatid heads in addition to fusion of large aggregates of residual bodies and cytoplasmic lobes that contained clumped spermatids in late stage VIII
• elongated spermatids appeared in phagocytic, membranous wheels in late stage VIII
• the phagocytic wheel is encased by ectoplasmic specializations and contained the nuclei, acrosomes and tails of elongated spermatids
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• spermatogenesis only appears normal prior to acrosome formation
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• females display malocclusion (22%)
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• congenital central cataracts
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• rare
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• Sertoli cell only seminiferous tubules at day 30
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• reduced testis weight starting from day 42, compared with wild-type mice
• normal seminal vesicle size
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• females display malocclusion (22%)
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|
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• epididymides lack sperm at day 42, and continue into adulthood
|
|
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• abnormal acrosomal caps with asymmetric formations and punctate appearances at day 30
|
|
|
• stage X seminiferous tubules have elongated spermatids with abnormal orientation, shape and chromatin condensation at day 30
• delay in the maturation of elongated spermatids with a mixture of spermatids (step 9, 10, and 11) at day 30
• a mixture of elongated spermatids (steps 9-11) as well as misaligned elongated spermatids near the basement membrane
• clumping of spermatid heads in addition to fusion of large aggregates of residual bodies and cytoplasmic lobes that contained clumped spermatids in late stage VIII
• clumping of step 16 spermatids in membranous wheels and near the basement membrane in stage X
• step 16 spermatids with their heads and tails fused
• cytoplasm of step 16 spermatids fails to form cytoplasmic lobes and residual bodies
|
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• delay in the normal maturation of pachytene spermatocytes as analyzed by chromatin condensation and cell size at post-natal day 10
|
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• delay in the normal maturation of spermatogonia as analyzed by chromatin condensation and cell size at post-natal day 10
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• stage XII seminiferous tubules display abnormal cells in meiosis at day 30
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• some seminiferous tubules contain a greater number of apoptotic-like dense bodies at post-natal day 10
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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