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Phenotypes Associated with This Genotype
Genotype
MGI:5817425
Allelic
Composition
Vipas39tm1c(KOMP)Mbp/Vipas39tm1c(KOMP)Mbp
Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic
Background
involves: C57BL/6 * C57BL/6J * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(cre/ERT2)Tyj mutation (3 available); any Gt(ROSA)26Sor mutation (958 available)
Vipas39tm1c(KOMP)Mbp mutation (0 available); any Vipas39 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal collagen structure in Vipas39tm1c(KOMP)Mbp/Vipas39tm1c(KOMP)Mbp Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+, and Vps33btm1.1Arte/Vps33btm1.1Arte Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+ mouse tail tendon

integument
• mice develop hair loss 4 weeks after tamoxifen treatment
• mice develop dry skin 4 weeks after tamoxifen treatment
• mice develop scaly skin 4 weeks after tamoxifen treatment

muscle
• in tamoxifen-treated mice, atomic force (AFM) and scanning electron microscopy (SEM) of tail tendon collagen I revealed swollen and distorted fibrils, lack of cohesion, crimping and disordered fibrils, unlike in control mice where normal D-banding and consistently regular and aligned fibrils are observed
• AFM showed a large increase in height with swelling causing large jumps in profile analysis
• although the fibrillar D-banding period is not significantly altered, localized variations in the shape of the banding are observed, suggesting a disparity in quaternary collagen I structure

skeleton
• in tamoxifen-treated mice, atomic force (AFM) and scanning electron microscopy (SEM) of tail tendon collagen I revealed swollen and distorted fibrils, lack of cohesion, crimping and disordered fibrils, unlike in control mice where normal D-banding and consistently regular and aligned fibrils are observed
• AFM showed a large increase in height with swelling causing large jumps in profile analysis
• although the fibrillar D-banding period is not significantly altered, localized variations in the shape of the banding are observed, suggesting a disparity in quaternary collagen I structure

growth/size/body
N
• no visceral abnormalities are observed after tamoxifen treatment

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ARC syndrome DOID:0050763 OMIM:PS208085
J:236095


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
06/12/2024
MGI 6.13
The Jackson Laboratory