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Phenotypes Associated with This Genotype
Genotype
MGI:7336110
Allelic
Composition
Sdccag8em2Lji/Sdccag8em2Lji
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdccag8em2Lji mutation (0 available); any Sdccag8 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 42.2% of mice die within 24 hours of birth
• only 17.4% of mice, lower than the expected 25%, are seen at birth

growth/size/body
• mice have reduced body weight at P30
• cyst formation in the kidney cortical region is seen at P90 and P180
• mice have normal body size at birth but are smaller at P30, indicating developmental retardation
• mild kidney enlargement is seen at P90 and P180, but not at P30

reproductive system
• all males are infertile

vision/eye
• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death
• photoreceptors show progressive mislocalization of phototransduction proteins
• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer nuclear layer and outer segments progresses rapidly from P30 to P180
• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration
• mice have only around 8 rows of photoreceptor nuclei lining the retinal outer nuclear layer at P30
• mice have only around 6 rows of photoreceptor nuclei remaining in the outer nuclear layer at P90 and close to 4 rows at P180
• scotopic ERG shows that a-wave amplitudes are decreased by 49% at P30
• scotopic ERG responses decline by 69% at P90 and by 85% by P180
• photopic ERG shows that b-wave amplitudes are decreased by 33% at P30
• photopic ERG responses decrease by 60% at P90 and 85% by P180

cellular
• primary cilium formation is seen only in 39% of mouse embryonic fibroblasts (MEFs) compared to 80% of wild-type MEFs
• the average lengths of cilia in MEFs are shorter
• the number of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
• the length of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
• apoptosis is detected in the outer nuclear layer at P21, indicating that outer segment protein mislocalization occurs after photoreceptor cell death

homeostasis/metabolism
• 24 hour urine albumin to creatinine ratios are elevated 1.5 times compared to wild-type, indicating proteinuria and chronic kidney progression by P180

limbs/digits/tail
• 95% penetrance of preaxial polyactyly in the hindlimbs
• bilateral polydactyly is predominant, accounting for 58% of mice
• among the mice with unilateral polydactyly 65% present with right-sided polydactyly

nervous system
• photoreceptors show progressive mislocalization of phototransduction proteins
• mice exhibit shortened connecting cilium and disorganized outer segment compartments, with significantly deteriorated disk membranes at P60, indicating that structure of photoreceptor cilia is destroyed
• photoreceptor outer segments are about half as short as that of controls at P30
• shortening of the outer nuclear layer and outer segments progresses rapidly from P30 to P180
• early-onset and rapidly progressive photoreceptor degeneration; rods degenerate earlier and faster than cones, presenting as rod-cone degeneration

renal/urinary system
• 24 hour urine albumin to creatinine ratios are elevated 1.5 times compared to wild-type, indicating proteinuria and chronic kidney progression by P180
• mice display nephronophthisis and develop chronic kidney disease with a later onset than Sdccag8em1Lji homozygotes
• the number of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
• the length of renal epithelial cilia is decreased in the distal convoluted tubules and cortical collecting ducts of the kidneys
• cyst formation in the kidney cortical region is seen at P90 and P180
• mild kidney enlargement is seen at P90 and P180, but not at P30
• minimal renal fibrosis is seen at P90 and obviously at P180

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bardet-Biedl syndrome 16 DOID:0110138 OMIM:615993
J:328191


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/24/2024
MGI 6.24
The Jackson Laboratory