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Sdccag8em1Lji
Endonuclease-mediated Allele Detail
Summary
Symbol: Sdccag8em1Lji
Name: serologically defined colon cancer antigen 8; endonuclease-mediated mutation 1, Li Jiang
MGI ID: MGI:7336099
Synonyms: Sdccag8Y236X
Gene: Sdccag8  Location: Chr1:176642226-176848003 bp, + strand  Genetic Position: Chr1, 82.66 cM, cytoband H3
Alliance: Sdccag8em1Lji page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Hypomorph)
Mutation:    Single point mutation
 
Mutation details: CRISPR/Cas9 technology generated a C to G change at position 708 (c.708C>G) resulting in a tyrosine to X substitution at amino acid 236 (p.Y236X) in exon 7. This corresponds to the human c.696T>G p.Y232X mutation known to cause Bardet-Biedl syndrome. (J:328191)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
Sdccag8em1Lji/Sdccag8em1Lji
involves: C57BL/6
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cellular
√
abnormal primary cilium morphology
√
absent kidney epithelial cell primary cilium
√
abnormal photoreceptor connecting cilium morphology
√
increased retina apoptosis
√
growth/size/body
√
decreased body weight
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kidney cortex cyst
√
kidney corticomedullary cyst
√
polycystic kidney
√
postnatal growth retardation
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enlarged kidney
√
homeostasis/metabolism
√
increased urine protein level
√
limbs/digits/tail
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preaxial polydactyly
√
mortality/aging
√
neonatal lethality, incomplete penetrance
√
prenatal lethality, incomplete penetrance
√
nervous system
√
abnormal retina photoreceptor morphology
√
abnormal photoreceptor connecting cilium morphology
√
short photoreceptor outer segment
√
abnormal retina cone cell outer segment morphology
√
retina photoreceptor degeneration
√
retina cone cell degeneration
√
retina rod cell degeneration
√
renal/urinary system
√
increased urine protein level
√
abnormal kidney morphology
√
absent kidney epithelial cell primary cilium
√
kidney cortex cyst
√
kidney corticomedullary cyst
√
polycystic kidney
√
enlarged kidney
√
renal fibrosis
√
reproductive system
√
male infertility
√
vision/eye
√
increased retina apoptosis
√
abnormal retina photoreceptor morphology
√
abnormal photoreceptor connecting cilium morphology
√
short photoreceptor outer segment
√
abnormal retina cone cell outer segment morphology
√
retina photoreceptor degeneration
√
retina cone cell degeneration
√
retina rod cell degeneration
√
thin retina outer nuclear layer
√
decreased a-wave amplitude
√
decreased b-wave amplitude
√
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
√ disease model   expected model not found
Models:
Human Diseases
hm1
IDs
 √
Expression
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sdccag8 Mutation:  36 strains or lines available
References
Original:  J:328191 Ren ZL, et al., Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations. Zool Res. 2022 May 18;43(3):442-456
All:  1 reference(s)
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory