Phenotypes associated with this allele

• Allele Symbol: Col3a1⁺
• Allele Name: wild type
• Allele ID: MGI:2430162
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Col3a1^Tsk2/Col3a1^+	C3H101H-Col3a1^Tsk2/H	MGI:2655257
ht2	Col3a1^m1Lsmi/Col3a1^+	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J	MGI:5307022
ht3	Col3a1^m1Lsmi/Col3a1^+	involves: 129P2/OlaHsd * C3H/HeH * C57BL/6J	MGI:5307021
ht4	Col3a1^m1Lsmi/Col3a1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:5307019

Genotype
MGI:2655257

ht1

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

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

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:215227 , J:31216 )

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

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

Genotype
MGI:5307022

ht2

• Allelic Composition: Col3a1^m1Lsmi/Col3a1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

mortality/aging

premature death ( J:180733 )

cardiovascular system

aortic dissection ( J:180733 )

Genotype
MGI:5307021

ht3

• Allelic Composition: Col3a1^m1Lsmi/Col3a1⁺
• Genetic Background: involves: 129P2/OlaHsd * C3H/HeH * C57BL/6J

mortality/aging

premature death ( J:180733 )

cardiovascular system

aortic dissection ( J:180733 )

Genotype
MGI:5307019

ht4

• Allelic Composition: Col3a1^m1Lsmi/Col3a1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

mortality/aging

premature death ( J:180729 , J:180733 )

• median life expectancy is 6 weeks due to aortic dissection (J:180729)

• some mice exhibit spontaneous aortic dissection resulting in death between 4 and 10 weeks of age (J:180733)

• more male mice are affected than female mice (J:180733)

cardiovascular system

abnormal aorta elastic tissue morphology ( J:180733 )

• the elastic lamellar exhibit reduced electron density with variable width and disrupted architecture compared with wild-type mice

abnormal aorta smooth muscle morphology ( J:180733 )

• tearing

aortic dissection ( J:180729 , J:180733 )

• most mice that develop spontaneous aortic dissection die between 4 and 10 weeks of age (J:180733)

increased systemic arterial systolic blood pressure ( J:180733 )

• at 4, 8, and 12 weeks of age

• however, systolic blood pressure at 14 weeks is normal

increased vasoconstriction ( J:180733 )

• in response to 5-hydroxytryptamine

• however, denuded aorta exhibit normal constriction in response to 5-hydroxytryptamine

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:180733 )

• intact aortas exhibit increased contractile response to 5-hydroxytryptamine compared with wild-type aorta

• however, aortic relaxation in response to acetylcholine and sodium nitroprusside is normal

muscle

abnormal aorta smooth muscle morphology ( J:180733 )

• tearing

increased vasoconstriction ( J:180733 )

• in response to 5-hydroxytryptamine

• however, denuded aorta exhibit normal constriction in response to 5-hydroxytryptamine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
vascular type Ehlers-Danlos syndrome		DOID:14756	OMIM:130050	J:180733