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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ehd1tm1.2Haba
targeted mutation 1.2, Hamid Band
MGI:4458098
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ehd1tm1.2Haba/Ehd1tm1.2Haba FVB.Cg-Ehd1tm1.2Haba MGI:4458100
hm2
Ehd1tm1.2Haba/Ehd1tm1.2Haba involves: 129P2/OlaHsd * C57BL/6J * FVB/N MGI:4458099


Genotype
MGI:4458100
hm1
Allelic
Composition
Ehd1tm1.2Haba/Ehd1tm1.2Haba
Genetic
Background
FVB.Cg-Ehd1tm1.2Haba
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehd1tm1.2Haba mutation (0 available); any Ehd1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 11% instead of the expected 25% were homozygous at post-natal days 10-12

reproductive system

endocrine/exocrine glands




Genotype
MGI:4458099
hm2
Allelic
Composition
Ehd1tm1.2Haba/Ehd1tm1.2Haba
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehd1tm1.2Haba mutation (0 available); any Ehd1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ehd1tm1.2Haba/Ehd1tm1.2Haba mice are small and males exhibit small testis

mortality/aging
• higher frequency (about 25%) of death at or near birth
• 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

growth/size/body
• females display malocclusion (22%)
• homozygous mice that survive early neonatal lethality are smaller from birth to adulthood
• lower weights in both male and female mice starting from 3 weeks of age

reproductive system
• delay in the normal maturation of spermatogonia as analyzed by chromatin condensation and cell size at post-natal day 10
• some seminiferous tubules contain a greater number of apoptotic-like dense bodies at post-natal day 10
• Sertoli cell only seminiferous tubules at day 30
• reduced testis weight starting from day 42, compared with wild-type mice
• normal seminal vesicle size
• epididymides lack sperm at day 42, and continue into adulthood
• 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
• delay in the normal maturation of pachytene spermatocytes as analyzed by chromatin condensation and cell size at post-natal day 10
• stage XII seminiferous tubules display abnormal cells in meiosis at day 30
• 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
• 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
• spermatogenesis only appears normal prior to acrosome formation

craniofacial
• females display malocclusion (22%)

vision/eye
• congenital central cataracts
• rare

endocrine/exocrine glands
• Sertoli cell only seminiferous tubules at day 30
• reduced testis weight starting from day 42, compared with wild-type mice
• normal seminal vesicle size

skeleton
• females display malocclusion (22%)

cellular
• epididymides lack sperm at day 42, and continue into adulthood
• 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
• delay in the normal maturation of pachytene spermatocytes as analyzed by chromatin condensation and cell size at post-natal day 10
• delay in the normal maturation of spermatogonia as analyzed by chromatin condensation and cell size at post-natal day 10
• stage XII seminiferous tubules display abnormal cells in meiosis at day 30
• some seminiferous tubules contain a greater number of apoptotic-like dense bodies at post-natal day 10





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory