Phenotypes associated with this allele

• Allele Symbol: Col17a1^tm1Tiin
• Allele Name: targeted mutation 1, Tiina Hurskainen
• Allele ID: MGI:5621004
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col17a1^tm1Tiin/Col17a1^tm1Tiin	involves: C57BL/6	MGI:5792045
hm2	Col17a1^tm1Tiin/Col17a1^tm1Tiin	involves: C57BL/6JOlaHsd	MGI:5621015

Genotype
MGI:5792045

hm1

• Allelic Composition: Col17a1^tm1Tiin/Col17a1^tm1Tiin
• Genetic Background: involves: C57BL/6

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

behavior/neurological

excessive scratching ( J:220622 )

• 43% of mice begin to scratch at 10-16 weeks of age

• 62% of males begin to scratch, while 83% of females begin to scratch by 1 year of age, while only 19% of mice reach the age of 1 without scratching

integument

skin inflammation ( J:220622 )

• eosinophil and mast cell infiltration is seen in perilesional and lesional skin

abnormal coat/hair pigmentation ( J:220622 )

• mice gray early

focal hair loss ( J:220622 )

• some mice carry patchy fur or even total hair loss

sparse hair ( J:220622 )

• thinner fur

abnormal skin morphology ( J:220622 )

• anchoring fibrils in skin are short, unorganized, and in some cases, abnormally clustered

• healthy skin from newborns and adults shows rudimentary and malformed hemidesmosomes, as well as lower numbers of hemidesmosomes

hyperkeratosis ( J:220622 )

• hyperkeratosis is seen in perilesional skin

thick epidermis ( J:220622 )

• perilesional skin shows thickening of the epidermis

abnormal epidermal-dermal junction morphology ( J:220622 )

• perilesional skin shows vacuolization in the dermo-epidermal junction

blistering ( J:220622 )

• subepidermal microblisters in the skin of newborns

skin lesions ( J:220622 )

• mice develop large erosions that are mostly covered by crusts on the nape of the neck, ears, snout, and tail, and sometimes on the paws

increased pruritus ( J:220622 )

• 43% of mice begin to scratch at 10-16 weeks of age

cellular

increased fibroblast proliferation ( J:220622 )

• perilesional skin shows hyperproliferation of fibroblasts

abnormal basement membrane morphology ( J:220622 )

• skin shows basement membrane that is loosened and a wider space between the basement membrane and the basal keratinocytes

hematopoietic system

increased basophil cell number ( J:220622 )

• in the circulation

increased eosinophil cell number ( J:220622 )

• in the circulation

increased neutrophil cell number ( J:220622 )

• in the circulation

increased monocyte cell number ( J:220622 )

• in the circulation

increased IgE level ( J:220622 )

• total IgE levels in sera and skin are increased in scratching mice, however tissue-bound or circulating antigen-specific IgE is not seen

immune system

increased basophil cell number ( J:220622 )

• in the circulation

increased eosinophil cell number ( J:220622 )

• in the circulation

increased neutrophil cell number ( J:220622 )

• in the circulation

increased monocyte cell number ( J:220622 )

• in the circulation

increased IgE level ( J:220622 )

• total IgE levels in sera and skin are increased in scratching mice, however tissue-bound or circulating antigen-specific IgE is not seen

increased autoantibody level ( J:220622 )

• mice show the presence of IgG and IgA autoantibodies with subepidermal reactivity

skin inflammation ( J:220622 )

• eosinophil and mast cell infiltration is seen in perilesional and lesional skin

pigmentation

abnormal coat/hair pigmentation ( J:220622 )

• mice gray early

Genotype
MGI:5621015

hm2

• Allelic Composition: Col17a1^tm1Tiin/Col17a1^tm1Tiin
• Genetic Background: involves: C57BL/6JOlaHsd

mortality/aging

postnatal lethality, incomplete penetrance ( J:219481 )

• very high mortality in the first weeks after birth

renal/urinary system

abnormal podocyte morphology ( J:219481 )

• abnormal interdigitation of secondary pedicles

podocyte foot process effacement ( J:219481 )

podocyte hypertrophy ( J:219481 )

• with swollen endothelial cells and clogged capillary lumen

abnormal renal glomerulus basement membrane morphology ( J:219481 )

• splitting in several areas

abnormal renal glomerulus morphology ( J:219481 )

• increased glomerular content

integument

abnormal hair growth ( J:219481 )

• growth of non-pigmented hair especially on the abdomen

focal hair loss ( J:219481 )

• especially on the abdomen

blistering ( J:219481 )

• subdermal blisters in newborn mice

• blisters and detachment of the epidermis after mild mechanical trauma

• spontaneous blisters on the tail and hindlimb paws

growth/size/body

decreased body size ( J:219481 )

postnatal growth retardation ( J:219481 )

• poor condition and growth retardation