Phenotypes associated with this allele

• Allele Symbol: Dsc1^tm1Dga
• Allele Name: targeted mutation 1, David R Garrod
• Allele ID: MGI:2156926
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dsc1^tm1Dga/Dsc1^tm1Dga	involves: C57BL/6J	MGI:3040269

Genotype
MGI:3040269

hm1

• Allelic Composition: Dsc1^tm1Dga/Dsc1^tm1Dga
• Genetic Background: involves: C57BL/6J

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

Eye, skin and growth abnormailities in Dsc1^tm1Dga/Dsc1^tm1Dga mice

behavior/neurological

behavior/neurological phenotype ( J:73102 )

N • homozygous null mutants displayed no obvious feeding abnormalities or oral blistering defects, had milk in their stomach, and showed normal epithelial histology of several tissues including the tongue, hard palate, esophagus, and forestomach

growth/size/body

abnormal snout skin morphology ( J:73102 )

• ulceration was commonly observed around the muzzle

• muzzle lesions appeared between 6 weeks and 6 months of age

decreased body weight ( J:73102 )

• at 2 days of age, homozygous null mice were indistinguishable in size from wild-type littermates

• at weaning (21 days), homozygous null mice weighed 30% less than the average wild-type littermates

• notably, 10% of homozygous null mice remained runted, whereas others caught up after weaning; by 3 months, there was no significant difference in weight between mutant and wild-type mice

dermal cyst ( J:73102 )

vision/eye

cornea opacity ( J:73102 )

• failure of eyelid fusion resulted in corneal damage and inflammation and corneal opacity later in life

failure of eyelid fusion ( J:73102 )

microphthalmia ( J:73102 )

• failure of eyelid fusion also resulted microphthalmia later in life

eyelids open at birth ( J:73102 )

• at birth, homozygous null mice appeared grossly normal; however, 10% of null mice were born with one or both eyes open

immune system

dermatitis ( J:73102 )

• exacerbation of ulcerating lesions eventually led to chronic dermatitis in older homozygous null mice

craniofacial

abnormal snout skin morphology ( J:73102 )

• ulceration was commonly observed around the muzzle

• muzzle lesions appeared between 6 weeks and 6 months of age

homeostasis/metabolism

impaired skin barrier function ( J:73102 )

• homozygous null neonates displayed epidermal fragility with localized breaches in the skin barrier

• measurement of permeability coefficients for water and mannitol under passive conditions revealed increased permeability to both water and solutes

integument

abnormal snout skin morphology ( J:73102 )

• ulceration was commonly observed around the muzzle

• muzzle lesions appeared between 6 weeks and 6 months of age

dermal cyst ( J:73102 )

impaired skin barrier function ( J:73102 )

• homozygous null neonates displayed epidermal fragility with localized breaches in the skin barrier

• measurement of permeability coefficients for water and mannitol under passive conditions revealed increased permeability to both water and solutes

dermatitis ( J:73102 )

• exacerbation of ulcerating lesions eventually led to chronic dermatitis in older homozygous null mice

alopecia ( J:73102 )

• between 1 and 2 months of age, >90% of homozygous null mice displayed hair loss; however, no abnormalities in timing of the hair cycle or in structure of hair follicles were observed up to 4 weeks of age

disheveled coat ( J:73102 )

• homozygous null adult mice exhibited a scruffy and untidy coat

hair follicle comedo ( J:73102 )

• presence of comedo-like structures (utriculi)

hair follicle degeneration ( J:73102 )

• hair loss occurred generally in older animals and was often associated with loss of normal hair follicle morphology and the presence of comedo-like structures (utriculi) and dermal cysts, suggesting hair follicle degeneration

abnormal epidermal layer morphology ( J:73102 )

• homozygous null neonates displayed epidermal fragility

abnormal keratinocyte differentiation ( J:73102 )

• the hyperproliferative null epidermis overexpressed keratins 6 and 16, indicating abnormal differentiation; however, cornified envelope formation appeared normal

abnormal epidermis stratum corneum morphology ( J:73102 )

hyperkeratosis ( J:73102 )

• localized

parakeratosis ( J:73102 )

• localized

abnormal epidermis stratum spinosum morphology ( J:73102 )

• at 2 days, epidermal thickening was primarily detected in the spinous layer

acantholysis ( J:73102 )

• homozygous null neonates displayed acantholysis (splits in the epidermis) within the granular layer, between the granular and spinous layers or between the cornified and granular layers

• epidermal splitting occurred because of weakened adhesion in the absence of cell lysis or desmosomal abnormalities

epidermal hyperplasia ( J:73102 )

• Ki67 staining revealed that epidermal hyperplasia was due to increased cell proliferation of keratinocytes in the suprabasal layers of null epidermis

thick epidermis ( J:73102 )

• homozygous null mice displayed epidermal thickening

flaky skin ( J:73102 )

• from day 2 onwards, homozygous null mice became readily distinguishable by the presence of white flakes or scales on their skin

skin lesions ( J:73102 )

• >90% of homozygous null mice displayed skin ulcerations between 1 and 2 months of age

• ulceration was commonly found around the muzzle, although lesions were also found elsewhere on the head, ventrally, or on the back

cellular

abnormal keratinocyte differentiation ( J:73102 )

• the hyperproliferative null epidermis overexpressed keratins 6 and 16, indicating abnormal differentiation; however, cornified envelope formation appeared normal