Allele/Variant

Rhotm1Phm

Species
Mus musculus
Symbol
Rhotm1Phm
Category
allele
Allele of gene
Rho
Transgenic Constructs
None
Synonyms
  • R-
  • Rho-
Description
A neomycin cassette under the control of a polymerase II promoter was inserted at codon 135 in exon 2. RT-PCR analysis of total RNA derived from ocular tissue showed an absence of transcript in homozygous mutant mice. A lack of encoded protein was determined in homozygous mutant mice via immunocytochemical staining of retinal sections.
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 cone electrophysiology
MGI
abnormal eye electrophysiology
MGI
abnormal retina photoreceptor morphology
MGI
abnormal rod electrophysiologyMGI
absent photoreceptor outer segment
MGI
disorganized photoreceptor outer segment
MGI
increased susceptibility to age-related retinal degeneration
MGI
short photoreceptor outer segmentMGI
thin retina outer nuclear layerMGI
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Disease Associations

Association
Disease Qualifier
Disease
Annotation details
Evidence
Source
References
is implicated inretinitis pigmentosa
  • TAS
is implicated inretinitis pigmentosa 4
  • TAS
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