Phenotypes associated with this allele

• Allele Symbol: Pkp3^tm1.1Fvr
• Allele Name: targeted mutation 1.1, Frans van Roy
• Allele ID: MGI:3798862
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkp3^tm1.1Fvr/Pkp3^tm1.1Fvr	involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL	MGI:3802961
ht2	Pkp3^tm1.1Fvr/Pkp3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL	MGI:3802960

Genotype
MGI:3802961

hm1

• Allelic Composition: Pkp3^tm1.1Fvr/Pkp3^tm1.1Fvr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

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

growth/size/body

cachexia ( J:136451 )

• at 8 months of age mice appear smaller due to dermatitis-associated wasting

immune system

enlarged lymph nodes ( J:136451 )

• older mice exhibit lymphadenosis associated with exfoliative dermatitis

dermatitis ( J:136451 )

• acute

integument

increased keratinocyte apoptosis ( J:136451 )

• keratinocyte apoptosis rates are increased compared to in wild-type mice

increased hair follicle apoptosis ( J:136451 )

• the inner hair root sheath is shorter than in wild-type mice and associated with increased apoptosis

increased keratinocyte proliferation ( J:136451 )

• keratinocyte proliferation rates are increased compared to in wild-type mice

dermatitis ( J:136451 )

• acute

abnormal auchene hair morphology ( J:136451 )

• the number of air columns is reduced by one

• the clubs are longer than in wild-type mice

abnormal awl hair morphology ( J:136451 )

• the number of air columns is reduced by one

• the clubs are longer than in wild-type mice

abnormal coat appearance ( J:136451 )

• at 4 weeks of age, mice coats appears disheveled, thinner and dull compared to wild-type mice

alopecia ( J:136451 )

• by 2 months of age mice have no hair on their ventral side mice develop secondary alopecia

retarded hair growth ( J:136451 )

• at day 7

sparse hair ( J:136451 )

• in 90% of mice at P21

brittle hair ( J:136451 )

• at day 8, hair is thin and brittle breaking near the hair bulb unlike in wild-type mice

matted coat ( J:136451 )

disheveled coat ( J:136451 )

• at 4 weeks of age

ruffled hair ( J:136451 )

abnormal hair cuticle ( J:136451 )

• irregular and even missing near the tips of the guard hairs

abnormal hair medulla ( J:136451 )

• the ladder-like pattern of the medulla is often deformed

• abnormalities in the medullar structure are likely due to reduced mitotic activity

abnormal hair medulla air spaces ( J:136451 )

• hair shafts in the medulla are densely packed lacking normal airspaces

abnormal zigzag hair morphology ( J:136451 )

• the clubs are longer than in wild-type mice

underdeveloped hair follicles ( J:136451 )

abnormal hair follicle inner root sheath morphology ( J:136451 )

• the inner hair root sheath is shorter than in wild-type mice and associated with increased apoptosis

abnormal hair follicle orientation ( J:136451 )

• deeper hair follicles are misaligned

abnormal vibrissa follicle morphology ( J:136451 )

• hair follicles in vibrissae exhibit swellings in the melanogenic zone or within the hair shafts

abnormal epidermal layer morphology ( J:136451 )

• desmosomes are found in clump-like aggregates instead of in bead-like patterns as in wild-type mice

• while apical desmosomes are normal lateral desmosomes are lost with areas of interdigitation between keratinocytes forming

• the density of desmosomes and adherence junctions is altered

parakeratosis ( J:136451 )

• at 3 weeks of age

acanthosis ( J:136451 )

• at 3 weeks of age

epidermal hyperplasia ( J:136451 )

• at 3 weeks of age, mice exhibit severe hyperplasia with acanthosis, parakeratosis, pustulosis and skin erythema

• mice exhibit pseudoepitheliomatous hyperplasia of the peripheral epidermis

thick epidermis ( J:136451 )

• the skin epidermis has one or two extra suprabasal cell layers than in wild-type mice

reddish skin ( J:136451 )

• at 3 weeks of age

cellular

increased keratinocyte apoptosis ( J:136451 )

• keratinocyte apoptosis rates are increased compared to in wild-type mice

increased hair follicle apoptosis ( J:136451 )

• the inner hair root sheath is shorter than in wild-type mice and associated with increased apoptosis

increased keratinocyte proliferation ( J:136451 )

• keratinocyte proliferation rates are increased compared to in wild-type mice

Genotype
MGI:3802960

ht2

• Allelic Composition: Pkp3^tm1.1Fvr/Pkp3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA * SJL

integument

abnormal coat appearance ( J:136451 )

• at 4 weeks of age, more than 50% of mice coats appears disheveled, thinner and dull compared to wild-type mice

retarded hair growth ( J:136451 )

• at day 7 in 50% of mice