Phenotypes Associated with This Genotype

Genotype
MGI:5308721

• Allelic Composition: Bgn^tm1Mfy/Y; Dcn^tm1Ioz/Dcn^tm1Ioz
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

integument

thin hypodermis ( J:91512 )

♂ • uniformly atrophic

abnormal cutaneous collagen fibril morphology ( J:91512 )

♂ • dermal collagen texture is obviously looser, with wide spaces separating collagen bundles

♂ • variability in fibril size is increased compared to either single mutant

♂ • fibril cross-sectional profiles are often ragged or notched

thin dermal layer ( J:91512 )

♂

decreased skin tensile strength ( J:91512 )

♂ • tearing of the coat after gentle stretching

♂ • skin ruptures are wider than in Dcn^tm1Ioz single homozygotes

reproductive system

male infertility ( J:180914 )

♂

skeleton

decreased length of long bones ( J:91512 )

♂ • shorter and wider long bones

increased diameter of long bones ( J:91512 )

♂ • shorter and wider long bones

abnormal bone collagen fibril morphology ( J:91512 )

♂ • all bone collagen fibrils display a serrated cross-sectional profiles and interfibrillar spaces are wider

♂ • the typical collagenous texture observed in normal bone is replaced with a uniform, glassy appearance of the mineralized matrix in polished and coated samples

decreased bone mineral density ( J:91512 )

♂ • markedly osteopenic at 2 months of age

decreased compact bone mass ( J:91512 )

♂ • at 2 months of age

decreased trabecular bone mass ( J:91512 )

♂ • at 2 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ehlers-Danlos syndrome spondylodysplastic type 2		DOID:0050802	OMIM:615349	J:91512