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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SOD1 (6647)

  Sod1	(MGI:98351)

• Mutation details: The 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)
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tg1  Disease Model	Tg(SOD1*)DF7Yaw/Tg(SOD1*)DF7Yaw	C57BL/6-Tg(SOD1*)DF7Yaw
tg2  Disease Model	Tg(SOD1*)DF7Yaw/0	C57BL/6-Tg(SOD1*)DF7Yaw

Phenotypes:

Affected Systems	tg1	tg2
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
amyotrophic lateral sclerosis type 1 IDs amyotrophic lateral sclerosis type 1       DOID:0060193 ICD10CM:G12.2 OMIM:105400 Close	√	√

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)