About   Help   FAQ
Sod1tm1Cep
Targeted Allele Detail
Summary
Symbol: Sod1tm1Cep
Name: superoxide dismutase 1, soluble; targeted mutation 1, Cephalon
MGI ID: MGI:1857872
Synonyms: SOD1-
Gene: Sod1  Location: Chr16:90017650-90023221 bp, + strand  Genetic Position: Chr16, 51.56 cM, cytoband B5-C3
Alliance: Sod1tm1Cep page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:33472
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: A PGK-neomycin resistance cassette replaced the entire coding region and sequences immediately 5' of exon 1. Immunoblot and enzyme activity analyses did not detect protein in red blood cells from homozygous mutant mice. (J:33472)
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
Sod1tm1Cep/Sod1tm1Cep
involves: 129S1/Sv * 129X1/SvJ
 
hm2
Sod1tm1Cep/Sod1tm1Cep
involves: 129S1/Sv * 129X1/SvJ * CD-1
 
ht3
Sod1tm1Cep/Sod1+
involves: 129S1/Sv * 129X1/SvJ * CD-1
 
cx4
Fancctm1Mab/Fancctm1Mab
Sod1tm1Cep/Sod1tm1Cep
involves: 129S1/Sv * 129X1/SvJ
 
Phenotypes:
Affected Systems
hm1
hm2
ht3
cx4
show or hide all annotated terms
       
hearing/vestibular/ear
√ √
cochlear hair cell degeneration
√
cochlear inner hair cell degeneration
√ √
cochlear outer hair cell degeneration
√ √
pillar cell degeneration
√
organ of Corti degeneration
√
abnormal auditory brainstem response waveform shape
√ √
increased or absent threshold for auditory brainstem response
√ √
increased susceptibility to age-related hearing loss
√ √
increased susceptibility to noise-induced hearing loss
√
hematopoietic system
√ √
abnormal bone marrow cell morphology/development
√
decreased common myeloid progenitor cell number
√ √
decreased bone marrow cell number
√
abnormal common lymphocyte progenitor cell morphology
√ √
decreased erythrocyte cell number
√ √
decreased hemoglobin content
√ √
increased mean corpuscular volume
√
polychromatophilia
√
decreased leukocyte cell number
√
decreased neutrophil cell number
√
abnormal lymphocyte morphology
√
decreased lymphocyte cell number
√
immune system
√
decreased leukocyte cell number
√
decreased neutrophil cell number
√
abnormal lymphocyte morphology
√
decreased lymphocyte cell number
√
liver/biliary system
√ √
hepatic steatosis
√
microvesicular hepatic steatosis
√
pale liver
√
abnormal hepatocyte physiology
√
nervous system
√ √
cochlear hair cell degeneration
√
cochlear inner hair cell degeneration
√ √
cochlear outer hair cell degeneration
√ √
cochlear ganglion degeneration
√
abnormal cochlear nerve morphology
√
skeleton
√
abnormal bone marrow morphology
√
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 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 Sod1 Mutation:  47 strains or lines available
References
Original:  J:33472 Reaume AG, et al., Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet. 1996 May;13(1):43-7
All:  27 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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory