Phenotypes associated with this allele

• Allele Symbol: Aspn^tm1.2Mmac
• Allele Name: targeted mutation 1.2, Marco Maccarana
• Allele ID: MGI:7564244
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aspn^tm1.2Mmac/Aspn^tm1.2Mmac	B6.129(Cg)-Aspn^tm1.2Mmac	MGI:7564259

Genotype
MGI:7564259

hm1

• Allelic Composition: Aspn^tm1.2Mmac/Aspn^tm1.2Mmac
• Genetic Background: B6.129(Cg)-Aspn^tm1.2Mmac

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

integument

abnormal skin morphology ( J:341806 )

• skin contains increased proteoglycans and contains about 2-fold more decorin and biglycan

abnormal cutaneous collagen fibril morphology ( J:341806 )

• collage fibril diameter is 7% thinner in skin

• however, reticular dermis shows regularly contoured collage fibrils with typical collagen banding pattern and collagen quantity per wet tissue is unchanged and no apparent abnormalities are seen in the structure of the dermis or hypodermis at 2 months of age and no differences in the density of blood vessels or macrophages are seen

abnormal skin tensile strength ( J:341806 )

• skin toughness, or energy required to achieve failure, is almost 75% greater than in wild-type mice at 4 months of age

• however, other mechanical parameters, including failure stress and strain, are not different but tend toward greater strength

homeostasis/metabolism

abnormal glycosaminoglycan level ( J:341806 )

• 4-month-old skin has more than double the chondroitin/dermatan sulfate content but lower heparan sulfate content with decreased sulfation

• compositional analysis of chondroitin/dermatan sulfate shows a decrease in non-sulfated disaccharide structures UA-GalNAc compensated by an increase in the 4-O-sulfated disaccharide structures UA-GalNAc-4S

• the 2- and 4-disulfated structures UA-2S-GalNAc-4S are slightly reduced

• however, no differences in hyaluronic acid levels

• iduronic acid-containing structures are increased in skin and contain mostly 4-sulfated iduronic-N-acetyl galactosamine

behavior/neurological

behavior/neurological phenotype ( J:341806 )

N • mice exhibit normal behavior up to 15 months of age