Phenotypes associated with this allele

• Allele Symbol: Ash1l^{Gt(AL0395)Wtsi}
• Allele Name: gene trap AL0395, Wellcome Trust Sanger Institute
• Allele ID: MGI:3852878
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ash1l^Gt(AL0395)Wtsi/Ash1l^Gt(AL0395)Wtsi	involves: 129P2/OlaHsd * C57BL/6J	MGI:5751088

Genotype
MGI:5751088

hm1

• Allelic Composition: Ash1l^{Gt(AL0395)Wtsi}/Ash1l^{Gt(AL0395)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

reproductive system

abnormal decidualization ( J:227516 )

♀ • decidualization is not apparent in uteri of mutants

abnormal uterus morphology ( J:227516 )

♀ • uterus is twisted

decreased endometrial gland number ( J:227516 )

♀ • 4 fold reduction in number endometrial uterine glands

thin endometrium ( J:227516 )

♀ • stromal layer of the uterus is thinner than controls

small uterus ( J:227516 )

♀ • uterus is smaller than controls

abnormal sperm number ( J:227516 )

♂ • reduction in number of motile sperm in the vas deferens, but not the epididymis

♂ • presence of apoptotic cells in the vas deferens

abnormal epididymis morphology ( J:227516 )

♂ • 17/20 mice exhibit a abnormal morphology from corpus to caput

abnormal cauda epididymis morphology ( J:227516 )

♂ • epididymis exhibits a widening of the cauda in 17/20 mice

abnormal vas deferens morphology ( J:227516 )

♂ • reduction in number of sperm in the vas deferens

♂ • presence of apoptotic cells in the vas deferens

♂ • twisting of the ductus deferens in 17/20 mice

abnormal postimplantation uterine environment ( J:227516 )

♀ • implantation and decidualization sites are not detected in mutant uterus

female infertility ( J:227516 )

♀

reduced male fertility ( J:227516 )

♂

embryo

abnormal decidualization ( J:227516 )

♀ • decidualization is not apparent in uteri of mutants

endocrine/exocrine glands

decreased sebaceous gland number ( J:227516 )

• reduction in sebaceous glands by 2 months of age (prior to onset of blepharitis)

absent Meibomian glands ( J:227516 )

decreased endometrial gland number ( J:227516 )

♀ • 4 fold reduction in number endometrial uterine glands

growth/size/body

decreased body size ( J:227516 )

• pups are smaller than controls at P14

decreased body weight ( J:227516 )

• pups are 60% of the weight of litter mates at weaning

postnatal growth retardation ( J:227516 )

immune system

blepharitis ( J:227516 )

• chronic blepharitis

• ulceration of the corneal epithelium and basal lamina clefts

integument

decreased sebaceous gland number ( J:227516 )

• reduction in sebaceous glands by 2 months of age (prior to onset of blepharitis)

absent Meibomian glands ( J:227516 )

mortality/aging

decreased survivor rate ( J:227516 )

• heterozygote x heterozygote matings produce fewer homozygotes (14%) than the expected Mendelian ratios (25%)

adipose tissue

decreased abdominal adipose tissue amount ( J:227516 )

♂ • 2-3 month old males have a reduced percentage of abdominal fat

skeleton

abnormal sternum morphology ( J:227516 )

• xiphoid process is attached at T8 rather than T7

asymmetric sternocostal joints ( J:227516 )

• ribs are attached in a staggered manner to the sternum

increased rib number ( J:227516 )

• 60% of mice have an 8th rib attached to the rib cage

vision/eye

absent Meibomian glands ( J:227516 )

blepharitis ( J:227516 )

• chronic blepharitis

• ulceration of the corneal epithelium and basal lamina clefts

abnormal cornea epithelium morphology ( J:227516 )

• 4/7 mice exhibit abnormal expansion of corneal epithelium and disorganization of the basal lamina by 2 months of age (prior to onset of blepharitis)