Phenotypes associated with this allele

• Allele Symbol: Card14^em1Maak
• Allele Name: endonuclease-mediated mutation 1, Masashi Akiyama
• Allele ID: MGI:7861304
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Card14^em1Maak/Card14^em1Maak	C57BL/6JJmsSlc-Card14^em1Maak	MGI:7861314
ht2	Card14^em1Maak/Card14^+	C57BL/6JJmsSlc-Card14^em1Maak	MGI:7861316

Genotype
MGI:7861314

hm1

• Allelic Composition: Card14^em1Maak/Card14^em1Maak
• Genetic Background: C57BL/6JJmsSlc-Card14^em1Maak

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:360877 )

• most mice die by P11, although about 19% survive as long as wild-type controls

integument

impaired skin barrier function ( J:360877 )

• transepidermal water loss of skin at P7 is approximately 6 times that of controls

• toluidine blue exclusion assay shows that more dye remains in some parts of the skin than in wild-type mice

skin inflammation ( J:360877 )

• P5 skin shows infiltration of mainly lymphocytes in the dermis

• treatment with a mAb that selectively neutralizes IL-17A results in decreased inflammatory cell infiltration of the entire dermis

abnormal hair follicle morphology ( J:360877 )

• P5 skin shows many keratinous follicular plugs

hyperkeratosis ( J:360877 )

• P5 skin shows severe hyperkeratosis with many follicular plugs and parakeratosis

• treatment with a mAb that selectively neutralizes IL-17A results in tinner epidermis, especially the stratum corneaum

parakeratosis ( J:360877 )

• P5 skin shows severe parakeratosis

acanthosis ( J:360877 )

• P5 skin shows severe acanthosis

scaly skin ( J:360877 )

• mice start to show abnormal scaling of the skin over the whole body at postnatal days 4-6

• treatment with a mAb that selectively neutralizes IL-17A results in decreased scales and crusts on ear skin

skin lesions ( J:360877 )

• P5 mice exhibit skin lesions

• mice intraperitoneally injected with a mAb that selectively neutralizes IL-17A show improvement of skin lesions

growth/size/body

slow postnatal weight gain ( J:360877 )

• weight gain markedly slows after P5

homeostasis/metabolism

impaired skin barrier function ( J:360877 )

• transepidermal water loss of skin at P7 is approximately 6 times that of controls

• toluidine blue exclusion assay shows that more dye remains in some parts of the skin than in wild-type mice

immune system

skin inflammation ( J:360877 )

• P5 skin shows infiltration of mainly lymphocytes in the dermis

• treatment with a mAb that selectively neutralizes IL-17A results in decreased inflammatory cell infiltration of the entire dermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pityriasis rubra pilaris		DOID:9212	OMIM:173200	J:360877

Genotype
MGI:7861316

ht2

• Allelic Composition: Card14^em1Maak/Card14⁺
• Genetic Background: C57BL/6JJmsSlc-Card14^em1Maak

integument

abnormal hair follicle morphology ( J:360877 )

• P5 hair pores exhibit keratinous plugs

dilated hair follicle ( J:360877 )

• P5 skin shows dilatation of hair pores and keratinous plugs

hyperkeratosis ( J:360877 )

• P5 mice show mild hyperkeratosis

• at 2-3 weeks of age, mice show hyperkeratosis on the tail

• however, adults exhibit normal ear thickness

acanthosis ( J:360877 )

• P5 mice show mild acanthosis

scaly skin ( J:360877 )

• at 2-3 weeks of age, mice show scales on the tail, with the scales gradually increasing until 4-5 weeks of age, however the scales spontaneously disappear 6-7 weeks after birth