Phenotypes Associated with This Genotype

Genotype
MGI:2175834

• Allelic Composition: Dsg3^tm1Stan/Dsg3^tm1Stan
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

Dsg3^tm1Stan/Dsg3^tm1Stan mice are runts and have skin erosions and eye lesions

mortality/aging

lethality at weaning, incomplete penetrance ( J:40804 )

• a few homozygotes die between P18 and P25, following severe weight loss

• however, more than 80% survive and again start to gain weight, although they remain clearly smaller than wild-type littermates

growth/size/body

mouth mucosal ulcer ( J:40804 )

• homozygotes exhibit oral mucous membrane inflammatory erosions and suprabasal blisters that may inhibit food intake and ultimately cause runting

• oropharyngeal biopsies indicate suprabasilar acantholysis and "tombstoning" of basal cells while EM reveals separation of desmosomes

• suckling and, later, solid food at P16-P20 presumably exacerbate the severity of oral lesions

decreased body size ( J:40804 )

• at P15-P20, homozygotes are grossly runted

decreased body weight ( J:40804 )

• homozygotes are born with normal weight but are lagging in weight gain by P8-P10

weight loss ( J:40804 )

• weight loss is noted at ~P20, i.e. at around weaning and start of solid food

postnatal growth retardation ( J:40804 )

• starting at P8-P10, homozygotes exhibit progressive growth retardation

craniofacial

mouth mucosal ulcer ( J:40804 )

• homozygotes exhibit oral mucous membrane inflammatory erosions and suprabasal blisters that may inhibit food intake and ultimately cause runting

• oropharyngeal biopsies indicate suprabasilar acantholysis and "tombstoning" of basal cells while EM reveals separation of desmosomes

• suckling and, later, solid food at P16-P20 presumably exacerbate the severity of oral lesions

cellular

abnormal cell adhesion ( J:40804 )

• homozygotes display impaired cell adhesion in the basal and immediate suprabasilar keratinocytes, esp. in the oral mucous membrane

vision/eye

conjunctivitis ( J:40804 )

• some homozygotes display suppurative conjunctivitis with suprabasilar blisters of eyelids and mucocutaneous conjunctiva

adipose tissue

decreased total body fat amount ( J:40804 )

• at autopsy, homozygotes exhibit a dramatic reduction in body fat, reminiscent of a starvation phenotype

immune system

conjunctivitis ( J:40804 )

• some homozygotes display suppurative conjunctivitis with suprabasilar blisters of eyelids and mucocutaneous conjunctiva

digestive/alimentary system

mouth mucosal ulcer ( J:40804 )

• homozygotes exhibit oral mucous membrane inflammatory erosions and suprabasal blisters that may inhibit food intake and ultimately cause runting

• oropharyngeal biopsies indicate suprabasilar acantholysis and "tombstoning" of basal cells while EM reveals separation of desmosomes

• suckling and, later, solid food at P16-P20 presumably exacerbate the severity of oral lesions

integument

alopecia ( J:40804 )

• runted homozygotes display alopecia at weaning

• bald areas are first noted on the forehead, and then proceed onto the entire back

abnormal hair shaft morphology ( J:40804 )

• balding homozygotes display dilated telogen follicles lacking a hair shaft

abnormal hair cycle ( J:40804 )

• homozygotes exhibit a normal first hair cycle but loss of hair after this cycle

• head to tail synchronization is lost after 2-3 cycles

• as a result, bald patches with regrowth, involving both the ventral and dorsal coats, are observed

acantholysis ( J:40804 )

• oropharyngeal biopsies indicate suprabasilar acantholysis and "tombstoning" of basal cells

• separated acantholytic cells retain "half" desmosomes with tonofilaments still attached and residual flocculent material (desmoglea) along the cell membrane

blistering ( J:40804 )

• traumatized skin around the eyes and snout shows typical suprabasilar blisters similar to pemphigus vulgaris lesions

• homozygotes may display suprabasilar blistering of the vaginal epithelium; however, the esophagus, cardiac portion of the stomach, and thymus appear histologically normal

skin lesions ( J:40804 )

• homozygotes do not show any tail abnormalities or flaky skin but develop crusted erosions around the eyes and snout, areas that are normally traumatized by scratching

• nursing mothers display nipple erosions caused by suckling

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pemphigus vulgaris		DOID:0060851	OMIM:169610	J:40804