Phenotypes Associated with This Genotype

Genotype
MGI:5642117

• Allelic Composition: Fgfr1^tm1Upir/Fgfr1^tm1Upir; Fgfr2^tm1Dor/Fgfr2^tm1Dor; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * C57BL/6J * DBA/2J

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

growth/size/body

decreased body size ( J:158802 )

decreased body weight ( J:221184 )

integument

increased keratinocyte proliferation ( J:158802 , J:221184 )

• keratinocyte proliferation is mildly increased at P18 and is strongly increased in the back and tail skin at 3 months of age (J:158802)

• however, keratinocytes in vitro show normal proliferation rate (J:158802)

impaired skin barrier function ( J:158802 , J:221184 )

• transepidermal water loss is slightly increased at P18 and is significantly increased at 6 months of age, indicating disturbed epidermal barrier function (J:158802)

skin inflammation ( J:158802 , J:221184 )

• progressive skin inflammation, with a 60% increase in epidermal gamma-delta T cells, an increase in mast cells in the dermis, and increase in CD45+ alpha-beta and gamma-delta T cells in the dermis (J:158802)

• however, macrophage or neutrophil infiltrate is not seen (J:158802)

dermatitis ( J:221184 )

abnormal skin adnexa morphology ( J:158802 )

• loss of skin appendages

absent sebaceous gland ( J:158802 )

• sebaceous glands are virtually absent in the back skin of older mice

alopecia ( J:158802 )

• mice are hairless by 2-4 months of age

progressive hair loss ( J:158802 , J:221184 )

• progressive hair loss and mice are hairless by 2-4 months of age (J:158802)

abnormal hair follicle morphology ( J:158802 )

• hair follicles are abnormally shaped at P18 (first telogen)

absent hair follicles ( J:158802 )

• hair follicles are virtually absent in the back skin of older mice and only a few cysts are present in the dermis

small hair follicles ( J:158802 )

• hair follicles are smaller at P18 (first telogen), but numbers are normal

abnormal hair cycle ( J:158802 )

• by P30, most follicles are in telogen compared to controls which have entered the second anagen

abnormal epidermal layer morphology ( J:158802 )

• a mild hypotrophy of the epidermis is seen at P5 (first anagen), but the dermis and appendages appear normal

• mice show only a rudimentary development of tight junctions in the epidermis

abnormal epidermis stratum granulosum morphology ( J:158802 )

• bubble-like intercellular clefts between the keratinocytes of the stratum granulosum

acanthosis ( J:158802 , J:221184 )

• mice develop epidermal hyperthickening combined with disorganization of the keratinocytes at 2-3 months of age which progresses with age (J:158802)

thick epidermis ( J:221184 )

abnormal skin appearance ( J:158802 )

• fragile appearing skin

dry skin ( J:158802 )

skin fibrosis ( J:158802 )

• fibrosis develops in the dermis

endocrine/exocrine glands

absent sebaceous gland ( J:158802 )

• sebaceous glands are virtually absent in the back skin of older mice

cellular

increased keratinocyte proliferation ( J:158802 , J:221184 )

• keratinocyte proliferation is mildly increased at P18 and is strongly increased in the back and tail skin at 3 months of age (J:158802)

• however, keratinocytes in vitro show normal proliferation rate (J:158802)

hematopoietic system

abnormal mast cell morphology ( J:221184 )

• mast cells in young cells are degranulated, followed by a decrease in degranulated mast cells thereafter

increased mast cell number ( J:221184 )

• increase in mast cell number between P7 and P9 is greater in mutants than in controls and remains high unlike in controls which show a decrease over time

• higher number of mast cell progenitors in the white adipose tissue

increased IgE level ( J:158802 )

• mice show enhanced levels of IgE in the dermis and in the serum

increased IgG1 level ( J:158802 )

• mice show enhanced levels of IgG1 in the dermis

increased IgG2a level ( J:158802 )

• mice show enhanced levels of IgG2a in the dermis

homeostasis/metabolism

impaired skin barrier function ( J:158802 , J:221184 )

• transepidermal water loss is slightly increased at P18 and is significantly increased at 6 months of age, indicating disturbed epidermal barrier function (J:158802)

abnormal chemokine level ( J:221184 )

• transient increase in mast cell chemokines in the epidermis and dermis

immune system

abnormal mast cell morphology ( J:221184 )

• mast cells in young cells are degranulated, followed by a decrease in degranulated mast cells thereafter

increased mast cell number ( J:221184 )

• increase in mast cell number between P7 and P9 is greater in mutants than in controls and remains high unlike in controls which show a decrease over time

• higher number of mast cell progenitors in the white adipose tissue

increased IgE level ( J:158802 )

• mice show enhanced levels of IgE in the dermis and in the serum

increased IgG1 level ( J:158802 )

• mice show enhanced levels of IgG1 in the dermis

increased IgG2a level ( J:158802 )

• mice show enhanced levels of IgG2a in the dermis

abnormal chemokine level ( J:221184 )

• transient increase in mast cell chemokines in the epidermis and dermis

skin inflammation ( J:158802 , J:221184 )

• progressive skin inflammation, with a 60% increase in epidermal gamma-delta T cells, an increase in mast cells in the dermis, and increase in CD45+ alpha-beta and gamma-delta T cells in the dermis (J:158802)

• however, macrophage or neutrophil infiltrate is not seen (J:158802)

dermatitis ( J:221184 )

behavior/neurological

polydipsia ( J:158802 )

• high consumption of drinking water

reproductive system

female infertility ( J:158802 , J:221184 )

♀ • all females are infertile (J:158802)

reduced male fertility ( J:158802 , J:221184 )

♂ • about 60% of males are infertile (J:158802)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:221184