Phenotypes Associated with This Genotype

Genotype
MGI:3833883

• Allelic Composition: Supv3l1^tm2Jkl/Supv3l1^tm2Jkl; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

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

Disfigured ears, abdominal alopecia and scales on feet in Supv3l1^tm2Jkl/Supv3l1^tm2Jkl Tg(Mx1-cre)1Cgn/0 mice

mortality/aging

premature death ( J:144991 )

• some mice become moribund at 4 weeks of age while others live up to 10 weeks

immune system

increased macrophage derived foam cell number ( J:144991 )

• in the red pulp of the liver

increased plasma cell number ( J:144991 )

• in the red pulp of the liver

interstitial pneumonia ( J:144991 )

growth/size/body

decreased body weight ( J:144991 )

• 50% of wild-type at 4 weeks

cachexia ( J:144991 )

• in moribund mice despite frequent feeding

postnatal growth retardation ( J:144991 )

• at weaning, mice exhibit slower growth than wild-type mice

adipose tissue

decreased total body fat amount ( J:144991 )

• in moribund mice

respiratory system

interstitial pneumonia ( J:144991 )

abnormal lung interstitium morphology ( J:144991 )

• mice exhibit a thickened interstitium with infiltration by inflammatory cells and occasionally foamy macrophages

muscle

muscular atrophy ( J:144991 )

• in moribund mice

skeleton

kyphosis ( J:144991 )

• mild in longer lived mice

endocrine/exocrine glands

decreased sebaceous gland number ( J:144991 )

• the number of sebaceous glands is decreased compared to in wild-type mice

cardiovascular system

dilated vasculature ( J:144991 )

• dilated vessels are found in the dermal layer of cells of the ear unlike in wild-type mice

behavior/neurological

abnormal locomotor behavior ( J:144991 )

• locomotor functions fail in moribund mice

hearing/vestibular/ear

abnormal ear morphology ( J:144991 )

• at weaning mice have flattened and disfigured ears compared to in wild-type mice

hematopoietic system

increased macrophage derived foam cell number ( J:144991 )

• in the red pulp of the liver

increased plasma cell number ( J:144991 )

• in the red pulp of the liver

cellular

increased macrophage derived foam cell number ( J:144991 )

• in the red pulp of the liver

integument

decreased sebaceous gland number ( J:144991 )

• the number of sebaceous glands is decreased compared to in wild-type mice

abnormal coat/ hair morphology ( J:144991 )

• at weaning, mice exhibit abnormal appearance and density of coat hairs compared to in wild-type mice

alopecia ( J:144991 )

• after 6 weeks

decreased hair follicle number ( J:144991 )

abnormal dermal layer morphology ( J:144991 )

• some mice exhibit mild dermal acute inflammatory infiltrate unlike in wild-type mice

• the dermal layer is atrophic unlike in wild-type mice

abnormal epidermal layer morphology ( J:144991 )

• dyskeratosis (apoptosis) is increased in the basal cell layer and mid-epidermis compared to in wild-type mice

hyperkeratosis ( J:144991 )

• severe

parakeratosis ( J:144991 )

• on the dorsal and abdominal skin

hypergranulosis ( J:144991 )

acanthosis ( J:144991 )

thick epidermis ( J:144991 )

scaly skin ( J:144991 )

• after 6 weeks mice exhibit scaly dorsal and abdominal skin, feet, tail, and ears