Allele/Variant

Espnlem1Pgg

Species
Mus musculus
Symbol
Espnlem1Pgg
Category
allele
Allele of gene
Espnl
Transgenic Constructs
None
Synonyms
  • Espnldelta
Description
CRISPR/Cas9 genome editing technology was used to create a deletion spanning from exon 1 to exon 8. This allele (c.135_1301del1165) forms protein p.A46Tfs14 and is referred to as Espnldelta. No labeling with BG35961 anti-ESPNL antibody was detected in cochlear hair bundles of homozygous mutant mice, indicating that this is a null allele.
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 outer hair cell stereociliary bundle morphology
MGI
decreased outer hair cell stereocilia number
MGI
impaired hearing
MGI
increased or absent threshold for auditory brainstem response
MGI
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Disease Associations

No data available