About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ehd4tm1.1Haba
targeted mutation 1.1, Hamid Band
MGI:4360181
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ehd4tm1.1Haba/Ehd4tm1.1Haba involves: C57BL/6 * C57BL/6J * FVB/N MGI:4360183
cx2
Ehd3tm1.2Haba/Ehd3tm1.2Haba
Ehd4tm1.1Haba/Ehd4tm1.1Haba
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J MGI:4999560


Genotype
MGI:4360183
hm1
Allelic
Composition
Ehd4tm1.1Haba/Ehd4tm1.1Haba
Genetic
Background
involves: C57BL/6 * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehd4tm1.1Haba mutation (0 available); any Ehd4 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Reduced testicular size in Ehd4tm1.1Haba/Ehd4tm1.1Haba mice

reproductive system
• trends towards lower relative number of germ cells/100 Sertoli cells in testes at d20, d31
• normal Sertoli cell numbers in testes at d20, d31
• increase apoptotic bodies in PAS stained sections of d10 testis
• a large increase in TUNEL-positive cells in testis at d10
• apoptotic cells are spermatogonia and preleptotene or leptotene spermatocytes based on their location in the tubule and the age of the animal
• increased apoptosis in the testis at d31
• slightly larger seminiferous tubules in testes at 10 days of age (d10)
• trends towards smaller seminiferous tubules in testes at d20, d31, and d75
• reduced testis size in male at 5 months of age
• decreased testis weight at 7-8 weeks, 4-12 months of age
• evident at d10, significantly decreases by 20 days, become more pronounced by day 31 and remains significant through 12 months of age
• normal body weight
• moderate reduction in sperm counts in epididymides at d110
• abnormal shaped spermatids in d31 testis
• head abnormalities in elongated spermatids
• first obvious in step 9-10 spermatids
• persist in later steps
• normal numbers step 5-6 round spermatids
• absence of germinal layers in some tubules
• absence of elongated spermatids
• absence of pachytene spermatocytes in most areas of the tubule
• lost of the normal arrangement of cell types at d75
• step 16 spermatids are mixed with step 10
• abnormal aggregates of step 16 spermatids
• a slight, but reproducible reduction in fertility in males
• trends towards fewer pups per litter

cellular
• abnormal shaped spermatids in d31 testis
• head abnormalities in elongated spermatids
• first obvious in step 9-10 spermatids
• persist in later steps
• trends towards lower relative number of germ cells/100 Sertoli cells in testes at d20, d31
• normal Sertoli cell numbers in testes at d20, d31
• moderate reduction in sperm counts in epididymides at d110
• increase apoptotic bodies in PAS stained sections of d10 testis
• a large increase in TUNEL-positive cells in testis at d10
• apoptotic cells are spermatogonia and preleptotene or leptotene spermatocytes based on their location in the tubule and the age of the animal
• increased apoptosis in the testis at d31
• trends towards increased proliferating cell nuclear antigen (PCNA)-positive cells in d10 mouse testis
• more centrally located PCNA-positive cells which appear to be preleptotene and leptotene primary spermatocytes in a large number of tubules in the testis, whereas in wild-type testis, PCNA-positive cells are arranged in the periphery of seminiferous tubules
• many of the PCNA-positive cells in the lumen are also positive for TUNEL

endocrine/exocrine glands
• lymphocytic accumulation in the islets (2 out of 30 mice) at 13-15 months old
• hypertrophy of the pancreatic islets of Langerhans (3 out of 30 mice) at d40
• normal blood glucose levels
• normal glucose tolerance test
• slightly larger seminiferous tubules in testes at 10 days of age (d10)
• trends towards smaller seminiferous tubules in testes at d20, d31, and d75
• reduced testis size in male at 5 months of age
• decreased testis weight at 7-8 weeks, 4-12 months of age
• evident at d10, significantly decreases by 20 days, become more pronounced by day 31 and remains significant through 12 months of age
• normal body weight

hearing/vestibular/ear
N
• mice exhibit normal compound action potential thresholds




Genotype
MGI:4999560
cx2
Allelic
Composition
Ehd3tm1.2Haba/Ehd3tm1.2Haba
Ehd4tm1.1Haba/Ehd4tm1.1Haba
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehd3tm1.2Haba mutation (0 available); any Ehd3 mutation (26 available)
Ehd4tm1.1Haba mutation (0 available); any Ehd4 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Smaller size and pale, small kidneys in Ehd3tm1.2Haba/Ehd3tm1.2Haba Ehd4tm1.1Haba/Ehd4tm1.1Haba mice

mortality/aging
• mice die between 3 and 24 weeks of age

renal/urinary system
• mice exhibit thrombotic microangiopathy (TMA)-like glomerular lesions unlike wild-type mice; however, no thrombi are observed
• glomeruli exhibit increased apoptosis compared to in wild-type mice
• mice exhibit podocytes with variable segmental foot process effacement
• mice display thickening and duplication of the GBM
• mice exhibit lamellation of the GBM
• mice exhibit avascular glomeruli and widening of subendothelial zones containing "flocculent material"
• mice exhibit abnormal capillary loops and platelet aggregation within capillary lumens unlike in wild-type mice
• mice exhibit swollen glomerular endothelial cells
• many glomerular endothelial cells contain numerous small structures that resemble abnormal endosomes or vacuoles
• mice exhibit a swollen endothelium without fenestrations
• mice exhibit variable degrees of mesangial cell interposition
• mice exhibit an expanded mesangium
• mice exhibit vacuolation within a lytic-appearing mesangium
• mice exhibit enlarged glomeruli with segmental thickening
• mice exhibit protein reabsorption droplets in proximal tubules
• some tubular dilation is observed

homeostasis/metabolism

growth/size/body

cardiovascular system
• mice exhibit thrombotic microangiopathy (TMA)-like glomerular lesions unlike wild-type mice; however, no thrombi are observed
• mice exhibit abnormal capillary loops and platelet aggregation within capillary lumens unlike in wild-type mice
• mice exhibit swollen glomerular endothelial cells
• many glomerular endothelial cells contain numerous small structures that resemble abnormal endosomes or vacuoles
• mice exhibit a swollen endothelium without fenestrations

cellular
• mice exhibit variable degrees of mesangial cell interposition
• glomeruli exhibit increased apoptosis compared to in wild-type mice





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory