Phenotypes associated with this allele

• Allele Symbol: Ctsa^tm1Adz
• Allele Name: targeted mutation 1, Alessandro dAzzo
• Allele ID: MGI:2449708
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsa^tm1Adz/Ctsa^tm1Adz	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/NJ)	MGI:3040657

Genotype
MGI:3040657

hm1

• Allelic Composition: Ctsa^tm1Adz/Ctsa^tm1Adz
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB/NJ)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:29674 )

• death at ~ 12 months of age

behavior/neurological

tremors ( J:29674 )

• appearance accompanied edema

ataxia ( J:29674 )

• appearance accompanied edema

cellular

abnormal lysosome morphology ( J:29674 )

• 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

flat face ( J:29674 )

• face appeared flat

growth/size/body

flat face ( J:29674 )

• face appeared flat

decreased body size ( J:29674 )

• weighed 25% - 40% less than littermate controls

enlarged liver ( J:29674 )

• evident at autopsy

enlarged spleen ( J:29674 )

• evident at autopsy

hematopoietic system

enlarged spleen ( J:29674 )

• evident at autopsy

homeostasis/metabolism

edema ( J:29674 )

• progressive and diffuse

immune system

enlarged spleen ( J:29674 )

• evident at autopsy

liver/biliary system

enlarged liver ( J:29674 )

• evident at autopsy

integument

disheveled coat ( J:29674 )

• deterioration of coat texture accompanied progressive edema and neurological symptoms