Phenotypes Associated with This Genotype

Genotype
MGI:2661074

• Allelic Composition: Dsg4^lah/Dsg4^lah
• Genetic Background: LAH/Pas

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

immune system

dermatitis ( J:33849 )

• persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis

integument

dermatitis ( J:33849 )

• persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis

abnormal coat appearance ( J:33849 )

• young homozygotes fail to develop a normal fur

abnormal hair growth ( J:33849 )

alopecia ( J:33849 )

• homozygotes display severe, generalized alopecia throughout their life

short hair ( J:33849 )

• hair of all types are shorter than normal

• truncal hairs are very short on both the dorsal and ventral surfaces

• plucked hair fibers are only 2.0 to 3.5 mm in length with a normal base, suggesting a synchronized developmental defect

sparse hair ( J:33849 )

• hair of all types are sparse

abnormal hair texture ( J:33849 )

rough coat ( J:33849 )

• hair of all types are rough

• hairs on the head are denser, rough, and irregular, except in large areas around the eyes

abnormal hair shaft morphology ( J:33849 )

• plucked hairs show a characteristic focal lance-head-like 3-to 6-fold enlargement of the hair shaft at the breakpoint

• only the distal end of the hair shaft is affected, while the proximal follicular end remains normal

• cuticular scales are disrupted and the hair shaft surface is irregular and rough

• the most apical (distal) part of the hair, beyond the enlargement, is highly irregular at the breakpoint

abnormal hair cortex morphology ( J:33849 )

• homozygotes display bundles of electron dense material and accumulation of distorted intermediate filaments within the hair shaft cortical cells just above the area of degeneration

hair follicle outer root sheath hyperplasia ( J:33849 )

• hair fiber dystrophy is associated with outer root sheath hyperplasia in catagen

distorted hair follicle pattern ( J:33849 )

• hair fibers become twisted within their follicles in catagen

hair follicle degeneration ( J:33849 )

• in early anagen follicles, cells just above the bulb (matrix region) undergo premature cornification and degeneration

• a long, narrow strand of degenerating cells is often noted above the lance-head enlargement; this part breaks off as the hair shaft emerges from the skin, causing an abnormally shaped hair tip

short vibrissae ( J:33849 )

• vibrissae are present but abnormally short

wavy vibrissae ( J:33849 )

• vibrissae are wavy

abnormal hair cycle anagen phase ( J:33849 )

• early anagen hair follicles exhibit premature cornification above the bulb (matrix region) with degeneration resulting in focal hair shaft deformity

abnormal hair cycle catagen phase ( J:33849 )

• catagen hair follicles exhibit marked follicular dystrophy

• in contrast, telogen hair follicles appear relatively normal

hyperkeratosis ( J:33849 )

• at 19 days of age, the stratum corneum is significantly thick and scaly

acanthosis ( J:33849 )

• a mild acanthosis and orthokeratosis of the interfollicular epidermis is observed

epidermal hyperplasia ( J:33849 )

• epidermal and follicular hyperplasia is reduced to nearly normal as follicles enter telogen

thick epidermis ( J:33849 )

• epidermal thickness is increased in anagen to its highest thickness in catagen

• at 19 days of age, the Malpighian layer (stratum basale plus stratum spinosum plus stratum granulosum) is ~2.5-fold thicker than normal

scaly skin ( J:33849 )

• skin displays a fine scale

thick skin ( J:33849 )

• skin is thicker and stiffer than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypotrichosis 6		DOID:0110703	OMIM:607903	J:33849