Phenotypes associated with this allele

• Allele Symbol: Zdhhc13^skc4
• Allele Name: skin/coat 4
• Allele ID: MGI:2671845
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zdhhc13^skc4/Zdhhc13^skc4	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:4818398
hm2	Zdhhc13^skc4/Zdhhc13^skc4	involves: C57BL/6J	MGI:3027856

Genotype
MGI:4818398

hm1

• Allelic Composition: Zdhhc13^skc4/Zdhhc13^skc4
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6

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

Small size, alopecia and kyphosis in Zdhhc13^skc4/Zdhhc13^skc4 mice

mortality/aging

premature death ( J:161519 )

• 50% die before 7.5 months of age and only 20% survive beyond one year of age

skeleton

kyphosis ( J:161519 )

• evident beginning at day 28

decreased bone mineral density ( J:161519 )

abnormal trabecular bone morphology ( J:161519 )

• decrease in the trabecular number of femur and an increased structure model index but trabecular thickness is not different

osteoporosis ( J:161519 )

growth/size/body

decreased body size ( J:161519 )

• at postnatal day 7 are smaller in size

slow postnatal weight gain ( J:161519 )

• poor weight gain in males and females

cachexia ( J:161519 )

enlarged liver ( J:161519 )

enlarged spleen ( J:161519 )

hematopoietic system

abnormal Kupffer cell morphology ( J:161519 )

• enlarged containing amyloid deposits

enlarged spleen ( J:161519 )

increased neutrophil cell number ( J:161519 )

decreased leukocyte cell number ( J:161519 )

immune system

abnormal Kupffer cell morphology ( J:161519 )

• enlarged containing amyloid deposits

enlarged spleen ( J:161519 )

increased neutrophil cell number ( J:161519 )

decreased leukocyte cell number ( J:161519 )

homeostasis/metabolism

amyloidosis ( J:161519 )

• amyloid deposition is observed in the entire dermis in the affected mice as homogenous eosinophilic substances by H&E staining

• systemic amyloidosis, amyloids were seen in liver, spleen, kidney, adrenal gland, pancreas, salivary glands, heart, lung, intestine and brain

increased blood urea nitrogen level ( J:161519 )

increased circulating bilirubin level ( J:161519 )

increased circulating alanine transaminase level ( J:161519 )

increased circulating aspartate transaminase level ( J:161519 )

• in four week old and adult

increased circulating creatine kinase level ( J:161519 )

liver/biliary system

abnormal Kupffer cell morphology ( J:161519 )

• enlarged containing amyloid deposits

enlarged liver ( J:161519 )

muscle

muscular atrophy ( J:161519 )

adipose tissue

decreased brown adipose tissue amount ( J:161519 )

decreased white adipose tissue amount ( J:161519 )

renal/urinary system

abnormal renal glomerulus morphology ( J:161519 )

• thickenings of the basement membranes of glomerular capillaries and mesangial matrix

• in the advanced stage, the glomerular capillaries are obliterated, and the glomerular structures are completely destroyed

cardiovascular system

abnormal Kupffer cell morphology ( J:161519 )

• enlarged containing amyloid deposits

integument

abnormal hair growth ( J:161519 )

• hypotrichosis

alopecia ( J:161519 )

sparse hair ( J:161519 )

• some hairs remained over the head and back, although, they were thin, short

rough coat ( J:161519 )

• have a decreased luster

abnormal hair shaft morphology ( J:161519 )

• abnormal hair shafts in the affected hair follicles and the upper portion is dilated

abnormal hair cycle ( J:161519 )

• significantly fewer active hair follicles with most remaining in the late telogen phase

thin dermal layer ( J:161519 )

hyperkeratosis ( J:161519 )

epidermal hyperplasia ( J:161519 )

wrinkled skin ( J:161519 )

Genotype
MGI:3027856

hm2

• Allelic Composition: Zdhhc13^skc4/Zdhhc13^skc4
• Genetic Background: involves: C57BL/6J

integument

abnormal hair growth ( J:85113 )

• cyclical hair loss and regrowth noted