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Tg(SOD1*)DF7Yaw
Transgene Detail
Summary
Symbol: Tg(SOD1*)DF7Yaw
Name: transgene insertion DF7, Yasuhiro Watanabe
MGI ID: MGI:5449420
Synonyms: DF
Transgene: Tg(SOD1*)DF7Yaw  Location: unknown  
Alliance: Tg(SOD1*)DF7Yaw page
Transgene
origin
Strain of Origin:  C57BL/6
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(SOD1*)DF7Yaw expresses 1 gene
 
Mutation detailsThe transgene contains the entire genomic sequence of human SOD1 with a 2-bp deletion at codon 126 and a FLAG sequence at the C-terminal. The mutation causes a frame shift and results in premature stop sequence at codon 131, resulting in a mutant protein of 130 amino acids. No SOD1 activity could be detected, however, Western and Northern analysis indicated protein expression and presence of RNA, respectively. Two lines were established, DF2 and DF7. (J:97932)
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)
tg1  Disease Model
 
tg2  Disease Model
 
Phenotypes:
Affected Systems
show or hide all annotated terms
   
behavior/neurological
weakness
paraparesis
mortality/aging
premature death
muscle
muscular atrophy
abnormal muscle physiology
nervous system
gliosis
abnormal motor neuron morphology
motor neuron degeneration
decreased spinal cord ventral horn cell number
skeleton
kyphosis
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
tg1
tg2
IDs
Expression
In Structures Affected by this Mutation: 4 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
References
Original:  J:97932 Watanabe Y, et al., Mouse motor neuron disease caused by truncated SOD1 with or without C-terminal modification. Brain Res Mol Brain Res. 2005 Apr 27;135(1-2):12-20
All:  2 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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory