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Phenotypes Associated with This Genotype
Genotype
MGI:3588311
Allelic
Composition
Hps1ep/Hps1ep
Genetic
Background
B6.C3Fe-Hps1ep/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps1ep mutation (7 available); any Hps1 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Wild-type and Hps1ep/Hps1ep littermates

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
• thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase

immune system
• lower natural killer cell activity
• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice

pigmentation
• display a reduction in pigmentation of the ears
• display a reduction in pigmentation of the tail
• the iris is slightly dark
• marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms

hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• lower natural killer cell activity

homeostasis/metabolism
• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
• on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls

vision/eye
• the iris is slightly dark

craniofacial
• display a reduction in pigmentation of the ears

hearing/vestibular/ear
• display a reduction in pigmentation of the ears

limbs/digits/tail
• display a reduction in pigmentation of the tail

integument
• display a reduction in pigmentation of the ears
• display a reduction in pigmentation of the tail

respiratory system
• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice
• progressive cytoplasmic foamy changes are observed in type II pneumocytes from P0 to 24 month of age, increasing in terms of both the affected cell number and degree of severity as mice age
• marked swelling and degenerative changes of type II pneumocytes (referred to as "giant lamellar body degeneration" or GLBD) in aged mice
• most lamellar bodies are increased in size at P0
• numerous giant-sized lamellar bodies are often fused with each other in aged mice
• enlarged air spaces in aged mice

growth/size/body
• display a reduction in pigmentation of the ears


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
07/19/2016
MGI 6.04
The Jackson Laboratory