Phenotypes associated with this allele

• Allele Symbol: Col3a1^Tsk2
• Allele Name: tight skin 2
• Allele ID: MGI:1860700
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col3a1^Tsk2/Col3a1^Tsk2	C3H101H-Col3a1^Tsk2/H	MGI:2655261
ht2	Col3a1^Tsk2/Col3a1^+	C3H101H-Col3a1^Tsk2/H	MGI:2655257

Genotype
MGI:2655261

hm1

• Allelic Composition: Col3a1^Tsk2/Col3a1^Tsk2
• Genetic Background: C3H101H-Col3a1^Tsk2/H

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

mortality/aging

prenatal lethality, complete penetrance ( J:14073 )

• homozygotes probably die prenatally

Genotype
MGI:2655257

ht2

• Allelic Composition: Col3a1^Tsk2/Col3a1⁺
• Genetic Background: C3H101H-Col3a1^Tsk2/H

adipose tissue

adipose tissue inflammation ( J:31216 )

• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the adipose tissue septa of skin

cellular

cellular phenotype ( J:55591 )

N • immunohistochemistry of endothelial cells from interscapular skin sections does not show indication of abnormal apoptosis, a symptom found in human scleroderma

immune system

adipose tissue inflammation ( J:31216 )

• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the adipose tissue septa of skin

skin inflammation ( J:31216 )

• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the lower dermis

• some mononuclear inflammatory cells are already present in skin at 10 days of age

integument

skin inflammation ( J:31216 )

• at 7-8 months of age, heterozygotes display significant infiltration of mononuclear inflammatory cells in the lower dermis

• some mononuclear inflammatory cells are already present in skin at 10 days of age

abnormal skin morphology ( J:31216 , J:215227 )

• on average, the hydroxyproline (collagen) content in mutant skin samples from the interscapular region is 50% higher than that in wild-type samples (J:31216)

• densitometric analysis revealed that mutant skin samples contain 3-4-fold more collagen than wild-type samples; however, no qualitative differences in the populations of collagenous proteins are observed (J:31216)

• reticular fibers in the skin thicken and become more pronounced as mice age (J:215227)

thick dermal layer ( J:31216 )

• dermal thickness is significantly increased at 10 days and 7-8 months of age

• at 3 months of age, the mean interscapular skin thickness is 0.8 mm relative to 0.5 mm in wild-type mice

tight skin ( J:14073 , J:31216 )

• heterozygotes can be detected by the tightness of the skin over the shoulders when picked up (J:14073)

• mutant mice can be classified between one and two weeks of age (J:14073)

• heterozygotes develop a tight skin phenotype that is first evident in the interscapular region at 10-14 days of age (J:31216)

skin fibrosis ( J:31216 )

• at 7-8 months of age, heterozygotes display skin fibrosis, with excessive accumulation of densely packed connective tissue in the dermis, extending into the subdermal adipose tissue and into the panniculus carnosus

• excessive deposition of thick collagen fibers is already noted at 10 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic scleroderma		DOID:418	OMIM:181750	J:31216