Phenotypes associated with this allele

• Allele Symbol: Card14^em9Lutzy
• Allele Name: endonuclease-mediated mutation 9, Cathy Lutz
• Allele ID: MGI:6164625
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Card14^em9Lutzy/Card14^em9Lutzy	C57BL/6J-Card14^em9Lutzy/J	MGI:6314146
ht2	Card14^em9Lutzy/Card14^+	C57BL/6J-Card14^em9Lutzy/J	MGI:6314145

Genotype
MGI:6314146

hm1

• Allelic Composition: Card14^em9Lutzy/Card14^em9Lutzy
• Genetic Background: C57BL/6J-Card14^em9Lutzy/J

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

mortality/aging

postnatal lethality, complete penetrance ( J:262723 )

• surviving neonates die after a few days

neonatal lethality, incomplete penetrance ( J:262723 )

growth/size/body

decreased body size ( J:262723 )

• surviving neonates are runted

integument

dry skin ( J:262723 )

• mice exhibit dry flaky skin

• however, mice do not have an epidermal barrier defect

flaky skin ( J:262723 )

Genotype
MGI:6314145

ht2

• Allelic Composition: Card14^em9Lutzy/Card14⁺
• Genetic Background: C57BL/6J-Card14^em9Lutzy/J

integument

increased keratinocyte proliferation ( J:262723 )

• hyperproliferation of keratinocytes in the basal layer

skin inflammation ( J:262723 )

• psoriatic skin contains an infiltrate of CD45+ leukocytes composed of increased numbers of neutrophils, myeloid antigen-presenting cells and gamma-delta and alpha-beta T cells

abnormal epidermal layer morphology ( J:262723 )

• epidermis shows presence of microabscesses made up of neutrophils

• however, mice do not have an epidermal barrier defect

hyperkeratosis ( J:262723 )

• ears show areas of hyperkeratosis, including parakeratosis and orthokeratosis and keratotic follicular plugging

orthokeratosis ( J:262723 )

parakeratosis ( J:262723 )

acanthosis ( J:262723 )

• ear tissues show acanthosis due to keratinocyte hyperproliferation and immune cell infiltration of the skin

thick epidermis ( J:262723 )

• tail skin shows increased thickening of the epidermis

dry skin ( J:262723 )

• mice develop dry flaky skin patches on the back at 5 days of age which begin to disappear at 7 days

flaky skin ( J:262723 )

• mice develop dry flaky skin patches on the back at 5 days of age which begin to disappear at 7 days

skin lesions ( J:262723 )

• scaling skin lesions

skin hyperplasia ( J:262723 )

• tail skin shows marked hyperplasia with increased thickening of the epidermis and immune cell infiltration

psoriasis ( J:262723 )

• mice develop thickened squamous skin on the tail between 2-3 weeks of age and the ears at 4-5 weeks of age, similar to human psoriasis skin lesions

• 100% of adult mice exhibit a chronic psoriatic phenotype with thickened squamous skin of the ears and tail and dry skin around the eyes and whiskers

• tail skin shows marked hyperplasia with increased thickening of the epidermis and immune cell infiltration

• psoriatic skin contains an infiltrate of CD45+ leukocytes composed of increased numbers of neutrophils, myeloid antigen-presenting cells and gamma-delta and alpha-beta T cells

• mice treated with a neutralizing antibody specific for IL-23p19 subunit show a decreased psoriatic phenotype on the ears and tail after 2 weeks of treatment

immune system

skin inflammation ( J:262723 )

• psoriatic skin contains an infiltrate of CD45+ leukocytes composed of increased numbers of neutrophils, myeloid antigen-presenting cells and gamma-delta and alpha-beta T cells

cellular

increased keratinocyte proliferation ( J:262723 )

• hyperproliferation of keratinocytes in the basal layer

cardiovascular system

abnormal blood vessel morphology ( J:262723 )

• increase in the number of enlarged CD31+ blood vessels is seen in the dermis, indicating an increase in dermal vasculature in psoriatic areas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis 2		DOID:0080475	OMIM:602723	J:262723