Mouse Genome Informatics
hm1
    Neu1tm1Adz/Neu1tm1Adz
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * NMRI)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 27% of pups in NMRI background and 10-15% in C57BL/6 background died suddenly around weaning age caused by inanition after 1 to 2 days of anorexia
• death occurred in other animals between the ages of 8 and 12 months

respiratory system
• at the end of their lifespan 8 to 12 month of age

behavior/neurological
• at the end of their lifespan 8 to 12 month of age
• at the end of their lifespan 8 to 12 month of age
• a shock-like twitch

homeostasis/metabolism
• mild hypoproteinemia in 8 months or older animals
• in penis, forehead developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
• prominent oligosacchariduria at 1 to 2 month, indicative of sialidosis

vision/eye
• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days

skeleton
• of the lumbar spine became prominent by the age of 6 months
• of the cervical and thoracic spine and thoracic spine became prominent by the age of 6 months

muscle
• a shock-like twitch

nervous system
• a shock-like twitch
• vacuolated microglia and perivascular macrophages in brain
• extensive storage in the epithelial cells of the choroid plexi and in the endothelial cells of the ependymal layer
• vacuolated neurons sparsely detected throughout the parenchyma
• no significant cerebellar Purkinje cell degeneration

growth/size/body
• about 25% less weight at birth compared to heterozygous or wild-type littermates
• loss of weight at the end of their life span 8 to 12 month of age

renal/urinary system
• the earliest and most affected lysosome vacuolation
• proximal more than distal and collecting tubules were extensively vacuolated already at 1 month of age
• at 3 months, the epithelial cell of the glomeruli and the Bowman capsule were affected
• prominent oligosacchariduria at 1 to 2 month, indicative of sialidosis
• enlarged kidneys with a markedly dilated renal pelvis
• severely distended bladder starting at 6 months of age
• urinary retention starting at 6 months of age

cellular
• prominent vacuolation in all lymphocytes, monocytes and eosinophils, but not in neutrophils
• extensive vacuolation of some cells in most of the systemic organs
• overt abnormalities in the gastrointestinal tract were not evident in the adult mutant mice
• mutant pups that had succumbed suddenly at weaning show the epithelial cells of the villi were markedly dilated with large, apical vacuoles
• inconspicuous lysosomal storage was detected in the heart, skeletal muscle and lung with exception of the endothelial cells lining the capillaries
• in eye, cytoplasmic vacuolation restrictive of the epithelial cell of the ciliary body and the conjunctiva
• the earliest and most affected lysosome vacuolation
• proximal more than distal and collecting tubules were extensively vacuolated already at 1 month of age
• at 3 months, the epithelial cell of the glomeruli and the Bowman capsule were affected

hematopoietic system
• appeared ballooned
• vacuolated microglia and perivascular macrophages in brain
• starting at 6 weeks of age
• a progressive increase on total cell count up to 5 months

immune system
• appeared ballooned
• vacuolated microglia and perivascular macrophages in brain
• starting at 6 weeks of age
• a progressive increase on total cell count up to 5 months

liver/biliary system
• appeared ballooned

cardiovascular system
• appeared ballooned

integument
• developed at 4 to 6 weeks of age and worsened in mice that survived past the 21 days
• hyperkeratosis of the stomach in mice showing premature death at around weaning

Mouse Models of Human Disease
OMIM IDRef(s)
Neuraminidase Deficiency 256550 J:76937