Allele/Variant

Nebtm1Slbt

Species
Mus musculus
Symbol
Nebtm1Slbt
Category
allele
Allele of gene
Neb
Transgenic Constructs
None
Synonyms
  • NEB KO
Description
The cap site, TATA-box and its putative Tmod-binding aminoterminal domain in the 5' UTR were replaced with a neomycin resistance cassette (also known as exon 2 and 3 in later reports). Western blot revealed absence of transcript in mutant mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
abnormal gait
MGI
abnormal H zone morphology
MGI
abnormal muscle contractility
MGI
abnormal sarcomere morphology
MGI
blepharoptosis
MGI
kyphosis
MGI
lethality at weaning, complete penetrance
MGI
postnatal growth retardation
MGI
postnatal lethality, incomplete penetrance
MGI
progressive muscle weakness
MGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated innemaline myopathy 2
  • TAS
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