Phenotypes associated with this allele

• Allele Symbol: Tmem79^ma
• Allele Name: matted
• Allele ID: MGI:1856947
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem79^ma/Tmem79^ma	B6.CBACaGr-Tmem79^ma/J	MGI:5559357
hm2	Tmem79^ma/Tmem79^ma	involves: C57BL/6JJcl * CBA/CaGr	MGI:5559071
hm3	Tmem79^ma/Tmem79^ma	involves: C57BL/Gr * CBA/CaGr	MGI:3604778
hm4	Tmem79^ma/Tmem79^ma	involves: CBA/CaGr	MGI:3604659
cx5	Flg^ft/Flg^ft Tmem79^ma/Tmem79^ma	involves: C57BL/6J * CBA/CaGr	MGI:3604733
cx6	Flg^ft/Flg^ft Tmem79^ma/Tmem79^ma	involves: CBA/CaGr	MGI:5559362

Genotype
MGI:5559357

hm1

• Allelic Composition: Tmem79^ma/Tmem79^ma
• Genetic Background: B6.CBACaGr-Tmem79^ma/J

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

integument

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

• skin inflammation following treatment with house dust might allergen is enhanced

dermatitis ( J:202453 )

• spontaneous, progressive dermatitis-like skin inflammation

• spontaneous atopic dermatitis

abnormal coat appearance ( J:202453 )

alopecia ( J:202453 )

• occasional at 32 weeks of age

brittle hair ( J:202453 )

• hair breakage at 32 weeks of age

matted coat ( J:202453 )

abnormal hair cortex keratinization ( J:202453 )

• keratinization defects

abnormal hair follicle development ( J:202453 )

• distorted hair follicle morphogenesis

abnormal corneocyte envelope morphology ( J:202453 )

• cornified cell envelopes are discontinuous, uneven, and highly disorganized

orthokeratosis ( J:202453 )

• prominent, with dermal inflammatory infiltrates

acanthosis ( J:202453 )

• marked

immune system

increased IgE level ( J:202453 )

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

• skin inflammation following treatment with house dust might allergen is enhanced

dermatitis ( J:202453 )

• spontaneous, progressive dermatitis-like skin inflammation

• spontaneous atopic dermatitis

vision/eye

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

hematopoietic system

increased IgE level ( J:202453 )

homeostasis/metabolism

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:202453

Genotype
MGI:5559071

hm2

• Allelic Composition: Tmem79^ma/Tmem79^ma
• Genetic Background: involves: C57BL/6JJcl * CBA/CaGr

integument

impaired skin barrier function ( J:202316 )

• increased transepidermal water loss and lower stratum corneum hydration

dermatitis ( J:202316 )

• spontaneous dermatitis with scratching behavior

• however, dermatitis is rescued by transgenic expression of the wild-type gene

matted coat ( J:202316 )

abnormal epidermis stratum corneum morphology ( J:202316 )

• impaired formation wit less resistance to physical external stress in a tape stripping test

acanthosis ( J:202316 )

• with leukocyte infiltration at 1 week prior to scratching behavior

immune system

dermatitis ( J:202316 )

• spontaneous dermatitis with scratching behavior

• however, dermatitis is rescued by transgenic expression of the wild-type gene

behavior/neurological

excessive scratching ( J:202316 )

• spontaneous dermatitis with scratching behavior

homeostasis/metabolism

impaired skin barrier function ( J:202316 )

• increased transepidermal water loss and lower stratum corneum hydration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:202316

Genotype
MGI:3604778

hm3

• Allelic Composition: Tmem79^ma/Tmem79^ma
• Genetic Background: involves: C57BL/Gr * CBA/CaGr

pigmentation

darkened coat color ( J:12996 )

• the matted hair exposes the black basal part of agouti hair, making the coat appear russet rather than black however there is no affect on pigment other than that found in the normal ageing process in C57 black mice

• the timing of changes in the coat color indicates early ageing in mutant mice

integument

abnormal coat appearance ( J:12996 )

• areas of small clumps contribute to a rough appearance

darkened coat color ( J:12996 )

• the matted hair exposes the black basal part of agouti hair, making the coat appear russet rather than black however there is no affect on pigment other than that found in the normal ageing process in C57 black mice

• the timing of changes in the coat color indicates early ageing in mutant mice

abnormal hair growth ( J:12996 )

• hairs are brittle and tend to split longitudinally

alopecia ( J:12996 )

• belly and head are rarely affected

• there is variable loss over the back and flanks due to rubbing on environmental surfaces

• baldness results from breakage above the skin rather than from patchy hair loss or failure of hairto regrow after molting

matted coat ( J:12996 )

• largest clumps involve dorsal long hair where least density

• areas of small clumps contribute to a rough appearance

• clumping is an outcome of grooming, saliva adhering distal hair shafts

Genotype
MGI:3604659

hm4

• Allelic Composition: Tmem79^ma/Tmem79^ma
• Genetic Background: involves: CBA/CaGr

integument

abnormal coat appearance ( J:24772 )

alopecia ( J:24772 )

• hairs break leading to variable degrees of baldness as mice age

matted coat ( J:24772 )

• the phenotype is obvious by 4 weeks of age, especially on the back and flanks where groups of hairs are matted at tips to form clumps

• hair does not lie flat

abnormal hair shaft morphology ( J:12995 )

abnormal hair cuticle ( J:12995 )

• cuticle shown to be permeable using fluorescent markers

• abnormal distribution of S-S linkage structure inferred as causal from experiments on normal cuticle

abnormal hair cycle ( J:12995 )

• there is no significant difference in the lengths of the first and second hair generations

• the third hair generation was shorter than normal and likely due to friction on skin exposed by progressive hair-loss

Genotype
MGI:3604733

cx5

• Allelic Composition: Flg^ft/Flg^ft; Tmem79^ma/Tmem79^ma
• Genetic Background: involves: C57BL/6J * CBA/CaGr

integument

integument phenotype ( J:30359 )

N • mice were examined at 5 weeks of age when the effects of the flaky-skin mutation on skin condition are not yet seen

abnormal coat/ hair morphology ( J:30359 )

abnormal coat appearance ( J:30359 )

• clumped hair and bald spots develop in mutant mice by 4 weeks of age

• the hair of older non-agouti black mice may appear brown although a pigment defect is not reported

alopecia ( J:30359 )

• bald patches occur in areas that are rubbed, breaking hair shafts

matted coat ( J:30359 )

• clumped hair can be seen in mutant mice by 4 weeks of age

• saliva introduced during grooming causes the hair to mat

• the matted appearance is easily seen when the fur is stroked opposite the normal direction of the coat

abnormal hair shaft morphology ( J:30359 )

• hair shaft above matrix does not develop normally in some mutant mice

• hairs tend to break and split

abnormal hair follicle matrix region morphology ( J:30359 )

• found where hair shafts become structurallly abnormal

Genotype
MGI:5559362

cx6

• Allelic Composition: Flg^ft/Flg^ft; Tmem79^ma/Tmem79^ma
• Genetic Background: involves: CBA/CaGr

integument

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

abnormal coat appearance ( J:202453 )

alopecia ( J:202453 )

• occasional at 32 weeks of age

brittle hair ( J:202453 )

• hair breakage at 32 weeks of age

• fragile hairs prone to longitudinal splitting and breakage with defective cuticle morphology

matted coat ( J:202453 )

abnormal hair cortex keratinization ( J:202453 )

• keratinization defects

abnormal hair cuticle ( J:202453 )

• defective cuticle morphology

orthokeratosis ( J:202453 )

• prominent, with dermal inflammatory infiltrates

acanthosis ( J:202453 )

• marked

abnormal skin appearance ( J:202453 )

dry skin ( J:202453 )

• significant ichthyosis is seen in neonates

scaly skin ( J:202453 )

• significant ichthyosis is seen in neonates

immune system

increased IgE level ( J:202453 )

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

skin inflammation ( J:202453 )

• marked skin inflammation with a broad spectrum of pathologies

• some mice exhibit profound lesions and excoriation

vision/eye

blepharitis ( J:202453 )

• occasional blepharitis and eyelid dermatitis in some mice

hematopoietic system

increased IgE level ( J:202453 )

homeostasis/metabolism

impaired skin barrier function ( J:202453 )

• increased transepidermal water loss