Mouse Genome Informatics
hm
    Mcoln1tm1Sasl/Mcoln1tm1Sasl
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• average age of death is at 8 months of age

behavior/neurological
• nearly all mice exhibit clasping at 6 to 9 months of age unlike wild-type mice
• at 3 months of age mice had lost strength compared to homozygotes at 2 months of age or wild-type mice at 3 months of age
• at 6 to 9 months of age
• at 6 months of age
• at 6.5 months of age
• at 6 to 9 months of age
• mice exhibit progressive hindlimb paralysis beginning at 6.5 months of age

nervous system
• at 8 months, mice exhibit neurons (Purkinje, astrocyte, microglial, and pyramidal cells) with large numbers of inclusions mostly confined to the basilar cytoplasm
• at 7 to 9 months of age
• mice exhibit optic nerve pallor

vision/eye
• mice exhibit optic nerve pallor

digestive/alimentary system
• mice exhibit extremely large vesicles in the gastric mucosa with only minor reductions in the number of granular pit cells and zymogenic cells

cardiovascular system
• subtle defect at 6 to 9 months of age

adipose tissue
• at 6 to 9 months of age

growth/size/body
• at 6 to 9 months of age
• at 6 to 9 months of age

muscle
• subtle defect at 6 to 9 months of age
• at 6 to 9 months of age

renal/urinary system
• at 7 to 9 months of age

homeostasis/metabolism

immune system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

integument
• at 6 to 9 months of age

hematopoietic system
• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

Mouse Models of Human Disease
OMIM IDRef(s)
Mucolipidosis IV 252650 J:135368