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Phenotypes Associated with This Genotype
Genotype
MGI:5770121
Allelic
Composition
Vps33btm1.1Arte/Vps33btm1.1Arte
Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic
Background
involves: C57BL/6 * C57BL/6J
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)
Vps33btm1.1Arte mutation (0 available); any Vps33b mutation (30 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

hematopoietic system
• in tamoxifen-treated mice
• in the spleen of tamoxifen-treated mice
• most bone marrow megakaryocytes in tamoxifen-treated mice lack immature granules and alpha granules
• some small alpha-granule-like structures are present in megakaryocytes of tamoxifen-treated mice
• megakaryocytes in tamoxifen-treated mice contain a large number of lamellar structures located close to the nucleus or to the periphery of the cells
• however, some megakaryocytes contain normal numbers of alpha granules
• in the splenic red pulp and bone marrow of tamoxifen-treated mice
• in tamoxifen-treated mice
• lacking in most platelets of tamoxifen-treated mice
• however, a subpopulation of platelets have normal alpha-granules
• without a change in platelet half-life in tamoxifen-treated mice
• in tamoxifen-treated mice
• in the spleen of tamoxifen-treated mice
• in tamoxifen-treated mice
• in the spleen of tamoxifen-treated mice
• in tamoxifen-treated mice
• in tamoxifen-treated mice

growth/size/body
N
• no visceral abnormalities are observed after tamoxifen treatment
• in tamoxifen-treated mice

integument
• mice develop hair loss 4 weeks after tamoxifen treatment
• 5 weeks after tamoxifen treatment (J:222766)
• mice develop dry skin 4 weeks after tamoxifen treatment (J:236095)
• mild to severe 5 weeks after tamoxifen treatment (J:222766)
• mice develop scaly skin 4 weeks after tamoxifen treatment (J:236095)
• occasional macerated skin lesions 5 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 greater level of distortion with a far more irregular profile and height variation than in mice homozygous for Vipas39tm1c(KOMP)Mbp and heterozygous for Gt(ROSA)26Sortm1(cre/ERT2)Tyj
• 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

homeostasis/metabolism
• in tamoxifen-treated mice
• in 9 of 15 tamoxifen-treated mice
• however, there is no sign of spontaneous bleeding

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 greater level of distortion with a far more irregular profile and height variation than in mice homozygous for Vipas39tm1c(KOMP)Mbp and heterozygous for Gt(ROSA)26Sortm1(cre/ERT2)Tyj
• 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

immune system
• in tamoxifen-treated mice
• in tamoxifen-treated mice
• in the spleen of tamoxifen-treated mice
• in tamoxifen-treated mice
• in the spleen of tamoxifen-treated mice
• in tamoxifen-treated mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ARC syndrome DOID:0050763 OMIM:PS208085
J:222766


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