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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ctsatm1Adz
targeted mutation 1, Alessandro dAzzo
MGI:2449708
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ctsatm1Adz/Ctsatm1Adz either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/NJ) MGI:3040657


Genotype
MGI:3040657
hm1
Allelic
Composition
Ctsatm1Adz/Ctsatm1Adz
Genetic
Background
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/NJ)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsatm1Adz mutation (0 available); any Ctsa mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death at ~ 12 months of age

behavior/neurological
• appearance accompanied edema
• appearance accompanied edema

cellular
• evident by 14 days of age, most tissues showed vacuolization in specific cells, especially in the reticuloendothelial system, including lymphocytes, macrophages, kidney tubular epithelium (especially evident in proximal tubule, and progressively worse with age) as well as liver hepatocytes and Kupffer cells, spleen (congested with foamy macrophages), and brain, often located around neurons and blood vessels
• pancreas, small and large intestine, lymph nodes, testis, ovaries, uterus, heart, bone marrow, and eye had membrane-bound vacuoles primarily in macrophages and cells of epithelial/endothelial origin
• no evidence of lysosomal storage in lungs, skeletal muscle or megakaryocytes

craniofacial
• face appeared flat

growth/size/body
• face appeared flat
• weighed 25% - 40% less than littermate controls

hematopoietic system
• evident at autopsy

homeostasis/metabolism
• progressive and diffuse

immune system
• evident at autopsy

liver/biliary system
• evident at autopsy

integument
• deterioration of coat texture accompanied progressive edema and neurological symptoms





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last database update
12/13/2017
MGI 6.11
The Jackson Laboratory