All Phenotypes Ehd4<tm1.1Haba> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ehd4^tm1.1Haba/Ehd4^tm1.1Haba	involves: C57BL/6 * C57BL/6J * FVB/N	MGI:4360183
cx2	Ehd3^tm1.2Haba/Ehd3^tm1.2Haba Ehd4^tm1.1Haba/Ehd4^tm1.1Haba	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:4999560

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Reduced testicular size in Ehd4^tm1.1Haba/Ehd4^tm1.1Haba mice

reproductive system

decreased male germ cell number ( J:160188 )

• 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

increased male germ cell apoptosis ( J:160188 )

• 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

abnormal seminiferous tubule size ( J:160188 )

enlarged seminiferous tubules ( J:160188 )

• slightly larger seminiferous tubules in testes at 10 days of age (d10)

small seminiferous tubules ( J:160188 )

• trends towards smaller seminiferous tubules in testes at d20, d31, and d75

small testis ( J:160188 )

• reduced testis size in male at 5 months of age

decreased testis weight ( J:160188 )

• 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

abnormal spermatogenesis ( J:160188 )

oligozoospermia ( J:160188 )

• moderate reduction in sperm counts in epididymides at d110

abnormal spermatid morphology ( J:160188 )

• abnormal shaped spermatids in d31 testis

• head abnormalities in elongated spermatids

• first obvious in step 9-10 spermatids

• persist in later steps

abnormal spermiogenesis ( J:160188 )

• lost of the normal arrangement of cell types at d75

• step 16 spermatids are mixed with step 10

• abnormal aggregates of step 16 spermatids

• absence of germinal layers in some tubules

• absence of elongated spermatids

• absence of pachytene spermatocytes in most areas of the tubule

• normal numbers step 5-6 round spermatids

reduced male fertility ( J:160188 )

• a slight, but reproducible reduction in fertility in males

• trends towards fewer pups per litter

cellular

abnormal spermatid morphology ( J:160188 )

• abnormal shaped spermatids in d31 testis

• head abnormalities in elongated spermatids

• first obvious in step 9-10 spermatids

• persist in later steps

decreased male germ cell number ( J:160188 )

• 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

oligozoospermia ( J:160188 )

• moderate reduction in sperm counts in epididymides at d110

increased male germ cell apoptosis ( J:160188 )

• 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

increased cell proliferation ( J:160188 )

• 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

abnormal pancreatic islet morphology ( J:160188 )

• lymphocytic accumulation in the islets (2 out of 30 mice) at 13-15 months old

pancreatic islet hyperplasia ( J:160188 )

• hypertrophy of the pancreatic islets of Langerhans (3 out of 30 mice) at d40

• normal blood glucose levels

• normal glucose tolerance test

abnormal seminiferous tubule size ( J:160188 )

enlarged seminiferous tubules ( J:160188 )

• slightly larger seminiferous tubules in testes at 10 days of age (d10)

small seminiferous tubules ( J:160188 )

• trends towards smaller seminiferous tubules in testes at d20, d31, and d75

small testis ( J:160188 )

• reduced testis size in male at 5 months of age

decreased testis weight ( J:160188 )

• 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

hearing/vestibular/ear phenotype ( J:152735 )

N	• mice exhibit normal compound action potential thresholds

Allelic Composition	Ehd3^tm1.2Haba/Ehd3^tm1.2Haba Ehd4^tm1.1Haba/Ehd4^tm1.1Haba
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehd3^tm1.2Haba mutation (0 available); any Ehd3 mutation (26 available)
Ehd4^tm1.1Haba 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 Ehd3^tm1.2Haba/Ehd3^tm1.2Haba Ehd4^tm1.1Haba/Ehd4^tm1.1Haba mice

mortality/aging

premature death ( J:171715 )

• mice die between 3 and 24 weeks of age

renal/urinary system

abnormal kidney vasculature morphology ( J:171715 )

• mice exhibit thrombotic microangiopathy (TMA)-like glomerular lesions unlike wild-type mice; however, no thrombi are observed

increased renal glomerulus apoptosis ( J:171715 )

• glomeruli exhibit increased apoptosis compared to in wild-type mice

increased urine protein level ( J:171715 )

• severe

podocyte foot process effacement ( J:171715 )

• mice exhibit podocytes with variable segmental foot process effacement

abnormal renal glomerulus basement membrane morphology ( J:171715 )

• mice display thickening and duplication of the GBM

• mice exhibit lamellation of the GBM

increased renal glomerulus basement membrane thickness ( J:171715 )

• mice display a thickened GBM

abnormal renal glomerulus morphology ( J:171715 )

• mice exhibit avascular glomeruli and widening of subendothelial zones containing "flocculent material"

abnormal glomerular capillary morphology ( J:171715 )

• mice exhibit abnormal capillary loops and platelet aggregation within capillary lumens unlike in wild-type mice

abnormal glomerular capillary endothelium morphology ( J:171715 )

• mice exhibit swollen glomerular endothelial cells

• many glomerular endothelial cells contain numerous small structures that resemble abnormal endosomes or vacuoles

absent glomerular endothelium fenestra ( J:171715 )

• mice exhibit a swollen endothelium without fenestrations

mesangial cell interposition ( J:171715 )

• mice exhibit variable degrees of mesangial cell interposition

expanded mesangial matrix ( J:171715 )

• mice exhibit an expanded mesangium

mesangiolysis ( J:171715 )

• mice exhibit vacuolation within a lytic-appearing mesangium

renal glomerulus hypertrophy ( J:171715 )

• mice exhibit enlarged glomeruli with segmental thickening

small kidney ( J:171715 )

decreased kidney weight ( J:171715 )

abnormal proximal convoluted tubule morphology ( J:171715 )

• mice exhibit protein reabsorption droplets in proximal tubules

dilated renal tubule ( J:171715 )

• some tubular dilation is observed

pale kidney ( J:171715 )

homeostasis/metabolism