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Phenotypes Associated with This Genotype
Genotype
MGI:5308721
Allelic
Composition
Bgntm1Mfy/Y
Dcntm1Ioz/Dcntm1Ioz
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (5 available)
Dcntm1Ioz mutation (0 available); any Dcn mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• uniformly atrophic
• 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
• tearing of the coat after gentle stretching
• skin ruptures are wider than in Dcntm1Ioz single homozygotes

reproductive system

skeleton
• shorter and wider long bones
• shorter and wider long bones
• 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
• markedly osteopenic at 2 months of age
• at 2 months of age
• at 2 months of age

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory