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Phenotypes Associated with This Genotype
Genotype
MGI:2661068
Allelic
Composition
Dsg4lah-J/Dsg4lah-J
Genetic
Background
involves: DBA/1LacJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsg4lah-J mutation (1 available); any Dsg4 mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• severely affected homozygotes become weak and die before weaning

growth/size/body
• at birth, homozygotes are slightly smaller than heterozygous control mice
• homozygotes remain runted throughout life
• homozygotes exhibit reduced body weights throughout their lifespan

pigmentation
• at 4-8 weeks of age, the skin is slightly darker in color

immune system
• homozygotes display significantly elevated IgE levels relative to control mice
• interestingly, IgE levels in male homozygotes are ~50% of those found in female homozygotes, indicating a sexually dichotomy
• homozygotes display enlarged peripheral lymph nodes
• affected homozygotes display ichthyosiform dermatitis

adipose tissue
• homozygotes exhibit significantly reduced fat reserves in the subcutis
• homozygotes exhibit significantly reduced fat reserves in the peritoneal cavity

endocrine/exocrine glands
• sebaceous glands associated with truncal hair follicles are hard to identify in anagen follicles in the second hair cycle

integument
• homozygotes exhibit significantly reduced fat reserves in the subcutis
• sebaceous glands associated with truncal hair follicles are hard to identify in anagen follicles in the second hair cycle
• affected homozygotes display ichthyosiform dermatitis
• aging homozygotes become alopecic and lose the "peach fuzz" appearance
• however, hair is still present on the head and shoulders
• at 4-8 weeks of age, hair is shorter than normal and close to the body, resulting in a "peach fuzz" appearance
• at 4-8 weeks of age, truncal hair is sparse
• mutant hairs display prominent swellings, usually at break sites, with loss of septate and septulate patterns of the hair shaft
• some fibers appear to invaginate along the length of the shaft (trichorrhexis invaginata); however, this is a hair cycle dependent feature
• a couple of homozygotes display hairs with spiral folds (pili torti) and tapered fractures, corkscrew hair with torsion nodule, lanceolate hair, and nodular swelling
• as homozygotes age, nails on the hind feet become curled and misshapen, resembling onychogryposis
• some nails or toes undergo autoamputation such that only stubs are visible at necropsy
• as homozygotes age, nails on the hind feet appear overgrown
• in contrast, nails on the fore feet remain normal
• starting at P9, all pelage hair follicles appear abnormal
• late anagen follicles initially show a focal change just above the hair bulb in the matrix region along with focal swellings of hair fibers; this "onion-skin-like" area is pushed up and out of the follicle by a relatively normal hair fiber that forms below it
• as follicles proceed into catagen, they show progressive changes leading to follicular and fiber dystrophy with severe fiber distortion, including twisting, breakage, and rupture through the follicle wall, associated with various degrees of inflammation composed of foreign body granulomas
• progression into telogen is associated with resolution of the inflammation with various degress of scarring and granulation tissue right below the epidermis
• as early as P1, homozygotes are readily recognizable by the absence of vibrissae
• starting at P9, the dermis shows a moderate increase in mixed inflammatory cells, mainly neutrophils
• the dermis increases in thickness, corresponding to entry into catagen with associated follicular rupture, foreign body granuloma formation, hyperplasia of follicular root sheaths and, finally, diffuse scarring
• the stratum corneum fails to decrease in thickness within the first 2 weeks of life, resulting in an ichthyosiform phenotype
• starting at P9, the stratum corneum displays a prominent scale with focal parakeratosis
• starting at P9, the epidermis displays moderate acanthosis and orthokeratosis
• starting at P9
• by P9, homozygotes display fine scaling of the skin
• scaling persists throughout the first 2 months of life
• at 4-8 weeks of age, homozygotes display a much thicker and wrinkled skin
• at 4-8 weeks of age, the skin is slightly darker in color
• affected homozygotes develop a non-inflammatory, proliferative skin disease with follicular dystrophy
• by P9, homozygotes display thick folded skin
• thickness persists throughout the first 2 months of life and decreases thereafter
• at 4-8 weeks of age, the skin is more fragile than normal

hematopoietic system
• homozygotes display significantly elevated IgE levels relative to control mice
• interestingly, IgE levels in male homozygotes are ~50% of those found in female homozygotes, indicating a sexually dichotomy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypotrichosis 6 DOID:0110703 OMIM:607903
J:83117


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
02/16/2021
MGI 6.16
The Jackson Laboratory