Phenotypes associated with this allele
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chsy1skt mutation
(0 available);
any
Chsy1 mutation
(35 available)
|
|
|
growth/size/body
|
• homozygotes are smaller than normal with normal proportions
|
limbs/digits/tail
|
• only the caudal vertebrae are affected
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chsy1skt mutation
(0 available);
any
Chsy1 mutation
(35 available)
Chsy1tm1Lex mutation
(4 available);
any
Chsy1 mutation
(35 available)
|
|
|
growth/size/body
hematopoietic system
limbs/digits/tail
vision/eye
|
• increased number of ectopically localized photoreceptor synapses, increased microglia, and thin outer nuclear layer
|
immune system
nervous system
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chsy1skt mutation
(0 available);
any
Chsy1 mutation
(35 available)
|
|
|
cellular
|
• this disruption in the synthesis of chondroitin sulfate glycosaminoglycans is evident in retinal interphotoreceptor matrix and hippocampus
|
immune system
|
• significant reduction in neutrophils in the bone marrow but not the spleen
|
|
• diminished numbers of macrophages in the bone marrow and spleen
|
|
• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
|
|
• CD45+ inflammatory cells are found
|
hematopoietic system
|
• significant reduction in neutrophils in the bone marrow but not the spleen
|
|
• diminished numbers of macrophages in the bone marrow and spleen
|
|
• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
|
behavior/neurological
nervous system
|
• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age
|
|
• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures
|
|
• at 1.5 years of age an increasing number of empty spaces are found surrounding cells in the CA1, CA2, and CA3 and a loss of wolframin ER transmembrane glycoprotein stained cells
|
limbs/digits/tail
growth/size/body
vision/eye
|
• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures
|
|
• absent chondroitin sulfate proteoglycans, ectopic synaptic interactions between photoreceptor and bipolar cells, increased apoptosis and progressive photoreceptor cell degeneration
|
|
• scotopic ERG at 8 weeks of age shows decreased a and b wave amplitudes
|
mortality/aging
|
• average lifespan of homozygotes is 20 months instead of 27 months
|
integument
renal/urinary system
|
• CD45+ inflammatory cells are found
|