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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Rab38tm1.1Ics
targeted mutation 1.1, Mouse Clinical Institute
MGI:6491324
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Rab38tm1.1Ics/Rab38tm1.1Ics involves: C57BL/6NTac MGI:6491325
cx2
 		Rab32tm1b(KOMP)Wtsi/Rab32tm1b(KOMP)Wtsi
Rab38tm1.1Ics/Rab38tm1.1Ics 		involves: C57BL/6N * C57BL/6NTac MGI:6491326
cx3
 		Rab32tm1b(KOMP)Wtsi/Rab32+
Rab38tm1.1Ics/Rab38tm1.1Ics 		involves: C57BL/6N * C57BL/6NTac MGI:6491327
cx4
 		Rab32tm1b(KOMP)Wtsi/Rab32tm1b(KOMP)Wtsi
Rab38tm1.1Ics/Rab38+ 		involves: C57BL/6N * C57BL/6NTac MGI:6491328


Genotype
MGI:6491325
hm1
Allelic
Composition		 Rab38tm1.1Ics/Rab38tm1.1Ics
Genetic
Background		 involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab38tm1.1Ics mutation (0 available); any Rab38 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
diluted coat color ( J:293385 )
• mice show a light pigment dilution of coat color

pigmentation
diluted coat color ( J:293385 )
• mice show a light pigment dilution of coat color

respiratory system
abnormal pulmonary acinus morphology ( J:293385 )
• mice show impaired lung alveolar structure
enlarged alveolar lamellar bodies ( J:293385 )
• mice show alveolar type II cells containing enlarged lamellar bodies
thick pulmonary interalveolar septum ( J:293385 )
• mice exhibit lung epithelium damage as evidenced by thickening of alveolar septa




Genotype
MGI:6491326
cx2
Allelic
Composition		 Rab32tm1b(KOMP)Wtsi/Rab32tm1b(KOMP)Wtsi
Rab38tm1.1Ics/Rab38tm1.1Ics
Genetic
Background		 involves: C57BL/6N * C57BL/6NTac
Cell Lines EPD0095_2_C12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation (1 available); any Rab32 mutation (16 available)
Rab38tm1.1Ics mutation (0 available); any Rab38 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal platelet dense granule morphology ( J:293385 )
• 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
decreased platelet ATP level ( J:293385 )
• 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
decreased platelet ADP level ( J:293385 )
• 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
decreased platelet dense granule number ( J:293385 )
• dense granule formation in platelets is impaired
• 70% decrease in the total number of dense granules in platelets
decreased platelet serotonin level ( J:293385 )
• 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
decreased platelet aggregation ( J:293385 )
• 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

homeostasis/metabolism
decreased platelet ATP level ( J:293385 )
• 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
decreased platelet serotonin level ( J:293385 )
• 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
decreased platelet aggregation ( J:293385 )
• 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
decreased susceptibility to induced thrombosis ( J:293385 )
• mice are resistant to thromboembolism induced by tissue factor administration
• thrombosis resulting from vessel injury is severely impaired
• thrombosis is impaired in a FeCl3-induced injury in the carotid, with no thrombus growth at all
increased bleeding time ( J:293385 )
• mice show an increase in bleeding time in a tail bleeding assay, with no cessation of bleeding after 30 minutes

integument
diluted coat color ( J:293385 )
• mice exhibit severe coat color dilution, presenting a light beige pigmentation

pigmentation
diluted coat color ( J:293385 )
• mice exhibit severe coat color dilution, presenting a light beige pigmentation
decreased eye pigmentation ( J:293385 )
• mice exhibit severe eye dilution, presenting red eyes

respiratory system
abnormal pulmonary acinus morphology ( J:293385 )
• mice show impaired lung alveolar structure
enlarged alveolar lamellar bodies ( J:293385 )
• mice show alveolar type II cells containing enlarged lamellar bodies
thick pulmonary interalveolar septum ( J:293385 )
• mice exhibit lung epithelium damage as evidenced by thickening of alveolar septa

vision/eye
decreased eye pigmentation ( J:293385 )
• mice exhibit severe eye dilution, presenting red eyes

cellular
decreased platelet ATP level ( J:293385 )
• 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

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Hermansky-Pudlak syndrome DOID:3753 OMIM:PS203300
 J:293385




Genotype
MGI:6491327
cx3
Allelic
Composition		 Rab32tm1b(KOMP)Wtsi/Rab32+
Rab38tm1.1Ics/Rab38tm1.1Ics
Genetic
Background		 involves: C57BL/6N * C57BL/6NTac
Cell Lines EPD0095_2_C12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation (1 available); any Rab32 mutation (16 available)
Rab38tm1.1Ics mutation (0 available); any Rab38 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
decreased platelet ATP level ( J:293385 )
• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
decreased platelet ADP level ( J:293385 )
• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
decreased platelet serotonin level ( J:293385 )
• mice show a 32% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology

homeostasis/metabolism
decreased platelet ATP level ( J:293385 )
• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content
decreased platelet serotonin level ( J:293385 )
• mice show a 32% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology

integument
diluted coat color ( J:293385 )
• mice show an intermediate diluted coat color to that seen in double homozygous mice

pigmentation
diluted coat color ( J:293385 )
• mice show an intermediate diluted coat color to that seen in double homozygous mice

cellular
decreased platelet ATP level ( J:293385 )
• platelets show an approximate 30% decrease in dense granule ADP and 17% decrease in ATP content




Genotype
MGI:6491328
cx4
Allelic
Composition		 Rab32tm1b(KOMP)Wtsi/Rab32tm1b(KOMP)Wtsi
Rab38tm1.1Ics/Rab38+
Genetic
Background		 involves: C57BL/6N * C57BL/6NTac
Cell Lines EPD0095_2_C12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab32tm1b(KOMP)Wtsi mutation (1 available); any Rab32 mutation (16 available)
Rab38tm1.1Ics mutation (0 available); any Rab38 mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
decreased platelet ATP level ( J:293385 )
• platelets show a 45% decrease in ADP and 20% decrease in ATP content
decreased platelet ADP level ( J:293385 )
• platelets show a 45% decrease in ADP and 20% decrease in ATP content
decreased platelet serotonin level ( J:293385 )
• mice show a 40% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology

homeostasis/metabolism
decreased platelet ATP level ( J:293385 )
• platelets show a 45% decrease in ADP and 20% decrease in ATP content
decreased platelet serotonin level ( J:293385 )
• mice show a 40% decrease in platelet dense granule 5-HT content
• however, platelet dense granules have a normal morphology

integument
diluted coat color ( J:293385 )
• mice exhibit less pigment dilution than double homozygotes, similar to single homozygous Rab38 mutant mice

pigmentation
diluted coat color ( J:293385 )
• mice exhibit less pigment dilution than double homozygotes, similar to single homozygous Rab38 mutant mice

cellular
decreased platelet ATP level ( J:293385 )
• platelets show a 45% decrease in ADP and 20% decrease in ATP content




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory