Mouse Genome Informatics
hm
    Bloc1s6pa/Bloc1s6pa
B6.Cg-Bloc1s6pa/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• survival beyond 16 months of age reduced to about 40%

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

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)
• "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
• at 12 months of age large lipid droplets and edema are seen in patches of the interstitium
• 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)
• at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen
• lung elastin levels are significantly reduced compared to controls
• at 12 months of age edema is seen in patches of the interstitium
• at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells
• emphysematous lesions are seen beginning at 12 months of age
• lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls
• lung reactance values decrease with age relative to controls

homeostasis/metabolism
• platetelet serotonin levels less than 1% of normal
• serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls
• reduced serotonin release after thrombin activation
• lysosomal enzyme secretion after thrombin activation about half normal
• greater than 15 minutes
• at 12 months of age edema is seen in patches of the interstitium
• reduced secretion of lysosomal enzymes into the urine of testosterone treated mice

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

behavior/neurological
• exaggerated ataxia in some mice after a swim test
• sometimes seen to roll over at the end of a swim test
• 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
• momentary, in mice displaying head tilt when first placed in water for a swim test

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 defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present
• mice with absent otoconia show absent vestibular compound action potentials

hematopoietic system
• platelet ADP levels are a third to a half that of C57BL/6J controls
• platelet ATP levels are about half that of C57BL/6J controls
• fewer dense granules per platelet
• platetelet serotonin levels less than 1% of normal
• lower natural killer cell activity
• reduced serotonin release after thrombin activation
• lysosomal enzyme secretion after thrombin activation about half normal

nervous system
• momentary, in mice displaying head tilt when first placed in water for a swim test

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

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

vision/eye
• near total iris albinism

growth/size/body
• at 12 months of age but not at 8 or 28 months of age

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

Mouse Models of Human Disease
OMIM IDRef(s)
Emphysema, Hereditary Pulmonary 130700 J:4098
Storage Pool Platelet Disease 185050 J:7327