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Phenotypes Associated with This Genotype
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsg4lah mutation (2 available); any Dsg4 mutation (66 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis

• persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis
• young homozygotes fail to develop a normal fur
• homozygotes display severe, generalized alopecia throughout their life
• 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
• hair of all types are sparse
• hair of all types are rough
• hairs on the head are denser, rough, and irregular, except in large areas around the eyes
• 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
• 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 fiber dystrophy is associated with outer root sheath hyperplasia in catagen
• hair fibers become twisted within their follicles in catagen
• 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
• vibrissae are present but abnormally short
• vibrissae are wavy
• early anagen hair follicles exhibit premature cornification above the bulb (matrix region) with degeneration resulting in focal hair shaft deformity
• catagen hair follicles exhibit marked follicular dystrophy
• in contrast, telogen hair follicles appear relatively normal
• at 19 days of age, the stratum corneum is significantly thick and scaly
• a mild acanthosis and orthokeratosis of the interfollicular epidermis is observed
• epidermal and follicular hyperplasia is reduced to nearly normal as follicles enter telogen
• 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
• skin displays a fine scale
• 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory