Phenotypes associated with this allele

• Allele Symbol: Sgpp1^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:3808500
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sgpp1^tm1(KOMP)Vlcg/Sgpp1^tm1(KOMP)Vlcg	involves: C57BL/6NTac	MGI:5517681

Genotype
MGI:5517681

hm1

• Allelic Composition: Sgpp1^{tm1(KOMP)Vlcg}/Sgpp1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac

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

Sgpp1^{tm1(KOMP)Vlcg}/Sgpp1^{tm1(KOMP)Vlcg} pups exhibit focal desquamation and abnormal epidermal histology

mortality/aging

postnatal lethality, incomplete penetrance ( J:199597 )

• some mice die between birth and 3 weeks

integument

abnormal epidermal layer morphology ( J:199597 )

• increased calcium levels within the epidermis

abnormal keratinocyte differentiation ( J:199597 )

• increased keratinocyte differentiation markers expression

thick epidermis stratum basale ( J:199597 )

abnormal epidermis stratum corneum morphology ( J:199597 )

• detachment of the stratum corneum

• thin stratum corneum

• dense and compact

thick epidermis stratum granulosum ( J:199597 )

thick epidermis stratum spinosum ( J:199597 )

thick epidermis ( J:199597 )

• at P2

abnormal skin appearance ( J:199597 , J:235035 )

• ichthyotic appearance in rare surviving adult mice (J:199597)

• severe ichthyosis at P4 (J:235035)

abnormal skin physiology ( J:199597 )

• mice exhibit skin desquamation on the trunk and around the joints of the upper and lower extremities that worsens with time

• peeling of back skin

increased keratinocyte proliferation ( J:199597 )

• increased in the stratum basale and subcorneal epidermal layers

impaired skin barrier function ( J:199597 )

• focal disruption of permeability in desquamated areas

• however, skin barrier formation develops normally

homeostasis/metabolism

impaired skin barrier function ( J:199597 )

• focal disruption of permeability in desquamated areas

• however, skin barrier formation develops normally

abnormal ceramide level ( J:199597 )

• decreased C26-fatty acid-containing ceramides in the epidermis

• decreased C14, C18, C22, and C24:1 ceramides in the keratinocytes

growth/size/body

decreased body size ( J:199597 )

• at P3

cellular

abnormal keratinocyte differentiation ( J:199597 )

• increased keratinocyte differentiation markers expression

increased keratinocyte proliferation ( J:199597 )

• increased in the stratum basale and subcorneal epidermal layers