Tg(SOD1*L126Z)45Dbo
Transgene Detail

Summary

• Symbol: Tg(SOD1*L126Z)45Dbo
• Name: transgene insertion 45, David R Borchelt
• MGI ID: MGI:5621061
• Synonyms: L126Z-SOD1-line45
• Transgene: Tg(SOD1*L126Z)45Dbo Location: unknown
• Alliance: Tg(SOD1*L126Z)45Dbo page

Transgene origin

• Strain of Origin: (C3H/HeJ x C57BL/6J)F2

Transgene description

• Transgene Type: Transgenic (Humanized sequence)
• Mutation: Insertion
• Mutation details: A 12 kb genomic fragment of human SOD1 with introns between exons 3, 4, and 5 removed, creating a fragment with just two introns (one between exon 1 and 2 and one between exon 2 and 3) and exons 3,4, and 5 fused to make one new exon, and a leucine to glutamine/glutamic acid substitution at position 126 (L126Z) in exon 5. This mutation results in a premature stop codon at position 126 and produces a truncated product that lacks the C-terminal 28 amino acids. Three lines were made: 171, 45, and 44. (J:219482)

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*L126Z)45Dbo/0	involves: C3H/HeJ * C57BL/6J

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
behavior/neurological	√
paralysis	√
hematopoietic system	√
microgliosis	√
immune system	√
microgliosis	√
mortality/aging	√
premature death	√
nervous system	√
microgliosis	√
astrocytosis	√
abnormal spinal cord morphology	√
abnormal motor neuron morphology	√
motor neuron degeneration	√
abnormal nervous system physiology	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

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disease model

expected model not found

Models:

Human Diseases	tg1
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:

3 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:219482 Wang J, et al., Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation. Hum Mol Genet. 2005 Aug 15;14(16):2335-47
• All: 5 reference(s)