Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab38tm1.1Ics mutation
(0 available);
any
Rab38 mutation
(15 available)
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integument
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• mice show a light pigment dilution of coat color
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pigmentation
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• mice show a light pigment dilution of coat color
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respiratory system
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• mice show impaired lung alveolar structure
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• mice show alveolar type II cells containing enlarged lamellar bodies
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• mice exhibit lung epithelium damage as evidenced by thickening of alveolar septa
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation
(1 available);
any
Rab32 mutation
(14 available)
Rab38tm1.1Ics mutation
(0 available);
any
Rab38 mutation
(15 available)
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hematopoietic system
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• dense granules show an abnormal dense core having a very small, linear, or poorly condensed appearance instead of a typical bulls-eye appearance
• deficiency in dense granule biogenesis is already seen at the megakaryocyte stage in the bone marrow
• however, alpha granules have a normal appearance
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• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice
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• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice
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• dense granule formation in platelets is impaired
• 70% decrease in the total number of dense granules in platelets
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• dense granule 5-hydroxytryptamine (5-HT) storage is almost abolished in platelets
• however, total platelet factor 4 (PF4), P-selectin, fibrinogen, and VWF levels are normal in platelets
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• platelets under flow form only a layer over the surface with no growth in height, indicating that initial platelet attachment is normal but is followed by a defect in thrombus growth
• -platelets exhibit decreased lysosomal exocytosis
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homeostasis/metabolism
integument
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• mice exhibit severe coat color dilution, presenting a light beige pigmentation
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pigmentation
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• mice exhibit severe coat color dilution, presenting a light beige pigmentation
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• mice exhibit severe eye dilution, presenting red eyes
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respiratory system
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• mice show impaired lung alveolar structure
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• mice show alveolar type II cells containing enlarged lamellar bodies
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• mice exhibit lung epithelium damage as evidenced by thickening of alveolar septa
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vision/eye
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• mice exhibit severe eye dilution, presenting red eyes
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cellular
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• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation
(1 available);
any
Rab32 mutation
(14 available)
Rab38tm1.1Ics mutation
(0 available);
any
Rab38 mutation
(15 available)
|
|
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hematopoietic system
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• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
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• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
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• mice show a 32% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology
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homeostasis/metabolism
integument
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• mice show an intermediate diluted coat color to that seen in double homozygous mice
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pigmentation
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• mice show an intermediate diluted coat color to that seen in double homozygous mice
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cellular
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• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation
(1 available);
any
Rab32 mutation
(14 available)
Rab38tm1.1Ics mutation
(0 available);
any
Rab38 mutation
(15 available)
|
|
|
hematopoietic system
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• platelets show a 45% decrease in ADP and 20% decrease in ATP content
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• platelets show a 45% decrease in ADP and 20% decrease in ATP content
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• mice show a 40% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology
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homeostasis/metabolism
integument
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• mice exhibit less pigment dilution than double homozygotes, similar to single homozygous Rab38 mutant mice
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pigmentation
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• mice exhibit less pigment dilution than double homozygotes, similar to single homozygous Rab38 mutant mice
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cellular
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• platelets show a 45% decrease in ADP and 20% decrease in ATP content
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