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Phenotypes Associated with This Genotype
Genotype
MGI:3588035
Allelic
Composition
Bloc1s6pa/Bloc1s6pa
Genetic
Background
B6.Cg-Bloc1s6pa/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bloc1s6pa mutation (11 available); any Bloc1s6 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival beyond 16 months of age reduced to about 40% (J:53228)
• survival beyond 16 months of age reduced to about 40% (J:53228)

pigmentation
• display a generalized pigmented dilution (J:99881)
• display a generalized pigmented dilution (J:99881)
• near total iris albinism (J:141035)
• near total iris albinism (J:141035)
• immature melanosomes found in follicular melanocytes (J:80751)
• increased numbers of multivesicular forms (J:80751)
• striated forms more frequent as well but are usually misshapen and with irregular pigment (J:80751)
• do not increase in size with maturation (J:80751)
• immature melanosomes found in follicular melanocytes (J:80751)
• increased numbers of multivesicular forms (J:80751)
• striated forms more frequent as well but are usually misshapen and with irregular pigment (J:80751)
• do not increase in size with maturation (J:80751)

respiratory system
• at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (J:4098)
• by 12 months of age changes in lung morphology become more severe (J:4098)
• prior to 8 months of age no abnormalities are detected in the lung (J:4098)
• at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (J:4098)
• by 12 months of age changes in lung morphology become more severe (J:4098)
• prior to 8 months of age no abnormalities are detected in the lung (J:4098)
• "honeycomb" effect on lung architecture (J:53228)
• "honeycomb" effect on lung architecture (J:53228)
• at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium (J:4098)
• at 12 months of age large lipid droplets and edema are seen in patches of the interstitium (J:4098)
• at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium (J:4098)
• at 12 months of age large lipid droplets and edema are seen in patches of the interstitium (J:4098)
• cellular debris in the alveolar spaces is seen in mice at 8 months of age (J:4098)
• at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction (J:4098)
• cellular debris in the alveolar spaces is seen in mice at 8 months of age (J:4098)
• at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction (J:4098)
• by 16 months of age, enlarged airspaces and destruction of alveolar tissue (J:88021)
• by 16 months of age, enlarged airspaces and destruction of alveolar tissue (J:88021)
• at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (J:4098)
• at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (J:4098)
• lung elastin levels are significantly reduced compared to controls (J:4098)
• lung elastin levels are significantly reduced compared to controls (J:4098)
• at 12 months of age edema is seen in patches of the interstitium (J:4098)
• at 12 months of age edema is seen in patches of the interstitium (J:4098)
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (J:4098)
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (J:4098)
• emphysematous lesions are seen beginning at 12 months of age (J:4098)
• emphysematous lesions are seen beginning at 12 months of age (J:4098)
• lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls (J:4098)
• lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls (J:4098)
• lung reactance values decrease with age relative to controls (J:88021)
• lung reactance values decrease with age relative to controls (J:88021)

homeostasis/metabolism
• platetelet serotonin levels less than 1% of normal (J:7327)
• platetelet serotonin levels less than 1% of normal (J:7327)
• serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls (J:4098)
• serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls (J:4098)
• reduced serotonin release after thrombin activation (J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal (J:7327)
• reduced serotonin release after thrombin activation (J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal (J:7327)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation (J:221384)
• agonist-dependent lysosome release in platelets is impaired (J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets (J:221384)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation (J:221384)
• agonist-dependent lysosome release in platelets is impaired (J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets (J:221384)
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80% (J:221384)
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80% (J:221384)
• greater than 15 minutes (J:7327)
• greater than 15 minutes (J:7327)
• at 12 months of age edema is seen in patches of the interstitium (J:4098)
• at 12 months of age edema is seen in patches of the interstitium (J:4098)
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (J:6219)
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (J:6219)

renal/urinary system
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (J:6219)
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (J:6219)
• kidney beta-glucuronidase levels increased 2.5X (J:6219)
• kidney levels of beta-galactosidase and alpha-mannosidase increased (J:6219)
• increased rate of lysosomal enzyme synthesis in kidneys (J:6219)
• kidney beta-glucuronidase levels increased 2.5X (J:6219)
• kidney levels of beta-galactosidase and alpha-mannosidase increased (J:6219)
• increased rate of lysosomal enzyme synthesis in kidneys (J:6219)

behavior/neurological
• exaggerated ataxia in some mice after a swim test (J:5215)
• exaggerated ataxia in some mice after a swim test (J:5215)
• sometimes seen to roll over at the end of a swim test (J:5215)
• sometimes seen to roll over at the end of a swim test (J:5215)
• erratic swimming pattern in some mice with head tilt (J:5215)
• 55/99 mice unable to swim - related to absence of normal otoliths (J:5215)
• erratic swimming pattern in some mice with head tilt (J:5215)
• 55/99 mice unable to swim - related to absence of normal otoliths (J:5215)
• seen in about 25% of homozygotes (J:5215)
• seen in about 25% of homozygotes (J:5215)
• momentary, in mice displaying head tilt when first placed in water for a swim test (J:5215)
• momentary, in mice displaying head tilt when first placed in water for a swim test (J:5215)

hearing/vestibular/ear
• variable presence of otoliths - from normal to complete absence (J:5215)
• otolith development improves by maternal feeding with increased levels of manganese during early gestation (J:5215)
• variable presence of otoliths - from normal to complete absence (J:5215)
• otolith development improves by maternal feeding with increased levels of manganese during early gestation (J:5215)
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present (J:89392)
• mice with absent otoconia show absent vestibular compound action potentials (J:89392)
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present (J:89392)
• mice with absent otoconia show absent vestibular compound action potentials (J:89392)

hematopoietic system
• platelet ADP levels are a third to a half that of C57BL/6J controls (J:7327)
• platelet ADP levels are a third to a half that of C57BL/6J controls (J:7327)
• platelet ATP levels are about half that of C57BL/6J controls (J:7327)
• platelet ATP levels are about half that of C57BL/6J controls (J:7327)
• fewer dense granules per platelet (J:7327)
• fewer dense granules per platelet (J:7327)
• platetelet serotonin levels less than 1% of normal (J:7327)
• platetelet serotonin levels less than 1% of normal (J:7327)
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)
• reduced serotonin release after thrombin activation (J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal (J:7327)
• reduced serotonin release after thrombin activation (J:7327)
• lysosomal enzyme secretion after thrombin activation about half normal (J:7327)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation (J:221384)
• agonist-dependent lysosome release in platelets is impaired (J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets (J:221384)
• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation (J:221384)
• agonist-dependent lysosome release in platelets is impaired (J:221384)
• stimulation with a low dose of thrombin elicits a muted release of lysosomal enzymes from platelets (J:221384)
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80% (J:221384)
• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80% (J:221384)

nervous system
• momentary, in mice displaying head tilt when first placed in water for a swim test (J:5215)
• momentary, in mice displaying head tilt when first placed in water for a swim test (J:5215)

cellular
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts (J:6801)
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts (J:6801)

immune system
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (J:4098)
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (J:4098)

vision/eye
• near total iris albinism (J:141035)
• near total iris albinism (J:141035)

growth/size/body
• at 12 months of age but not at 8 or 28 months of age (J:4098)
• at 12 months of age but not at 8 or 28 months of age (J:4098)

integument
N
• electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition (J:68448)
• electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition (J:68448)
• display a generalized pigmented dilution (J:99881)
• display a generalized pigmented dilution (J:99881)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory