Phenotypes Associated with This Genotype

Genotype
MGI:5770121

• Allelic Composition: Vps33b^tm1.1Arte/Vps33b^tm1.1Arte; Gt(ROSA)26Sor^{tm1(cre/ERT2)Tyj}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J

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

Abnormal collagen structure in Vipas39^{tm1c(KOMP)Mbp}/Vipas39^{tm1c(KOMP)Mbp} Gt(ROSA)26Sor^{tm1(cre/ERT2)Tyj}/Gt(ROSA)26Sor⁺, and Vps33b^tm1.1Arte/Vps33b^tm1.1Arte Gt(ROSA)26Sor^{tm1(cre/ERT2)Tyj}/Gt(ROSA)26Sor⁺ mouse tail tendon

hematopoietic system

enlarged spleen ( J:222766 )

• in tamoxifen-treated mice

extramedullary hematopoiesis ( J:222766 )

• in the spleen of tamoxifen-treated mice

abnormal megakaryocyte morphology ( J:222766 )

• 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

increased megakaryocyte cell number ( J:222766 )

• in the splenic red pulp and bone marrow of tamoxifen-treated mice

increased neutrophil cell number ( J:222766 )

• in tamoxifen-treated mice

decreased platelet alpha-granule number ( J:222766 )

• lacking in most platelets of tamoxifen-treated mice

• however, a subpopulation of platelets have normal alpha-granules

thrombocytosis ( J:222766 )

• without a change in platelet half-life in tamoxifen-treated mice

decreased mean platelet volume ( J:222766 )

• in tamoxifen-treated mice

decreased dendritic cell number ( J:222766 )

• in the spleen of tamoxifen-treated mice

decreased lymphocyte cell number ( J:222766 )

• in tamoxifen-treated mice

increased macrophage cell number ( J:222766 )

• in the spleen of tamoxifen-treated mice

increased monocyte cell number ( J:222766 )

• in tamoxifen-treated mice

decreased platelet aggregation ( J:222766 )

• in tamoxifen-treated mice

growth/size/body

growth/size/body region phenotype ( J:236095 )

N • no visceral abnormalities are observed after tamoxifen treatment

enlarged spleen ( J:222766 )

• in tamoxifen-treated mice

integument

alopecia ( J:236095 )

• mice develop hair loss 4 weeks after tamoxifen treatment

dry skin ( J:222766 , J:236095 )

• 5 weeks after tamoxifen treatment (J:222766)

• mice develop dry skin 4 weeks after tamoxifen treatment (J:236095)

scaly skin ( J:222766 , J:236095 )

• mild to severe 5 weeks after tamoxifen treatment (J:222766)

• mice develop scaly skin 4 weeks after tamoxifen treatment (J:236095)

skin lesions ( J:222766 )

• occasional macerated skin lesions 5 weeks after tamoxifen treatment

muscle

abnormal tendon collagen fibril morphology ( J:236095 )

• 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 Vipas39^{tm1c(KOMP)Mbp} and heterozygous for Gt(ROSA)26Sor^{tm1(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

decreased platelet aggregation ( J:222766 )

• in tamoxifen-treated mice

increased bleeding time ( J:222766 )

• in 9 of 15 tamoxifen-treated mice

• however, there is no sign of spontaneous bleeding

skeleton

abnormal tendon collagen fibril morphology ( J:236095 )

• 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 Vipas39^{tm1c(KOMP)Mbp} and heterozygous for Gt(ROSA)26Sor^{tm1(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

enlarged spleen ( J:222766 )

• in tamoxifen-treated mice

increased neutrophil cell number ( J:222766 )

• in tamoxifen-treated mice

decreased dendritic cell number ( J:222766 )

• in the spleen of tamoxifen-treated mice

decreased lymphocyte cell number ( J:222766 )

• in tamoxifen-treated mice

increased macrophage cell number ( J:222766 )

• in the spleen of tamoxifen-treated mice

increased monocyte cell number ( J:222766 )

• in tamoxifen-treated mice

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