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Rorbhstp-2J
Spontaneous Allele Detail
Summary
Symbol: Rorbhstp-2J
Name: RAR-related orphan receptor beta; high stepper 2 Jackson
MGI ID: MGI:7495931
Synonyms: h4
Gene: Rorb  Location: Chr19:18907969-19088560 bp, - strand  Genetic Position: Chr19, 13.28 cM
Alliance: Rorbhstp-2J page
Mutation
origin
Strain of Origin:  B6.129S7-Il1r1tm1Imx/J
Mutation
description
Allele Type:    Spontaneous (Modified isoform(s), Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous guanine to adenine substitution in exon 8 replaces a cysteine with a premature stop codon that is predicted to impact both Rorb isoforms ENSMUST00000040153.15 (Rorb-201) and ENSMUST00000112832.8 (Rorb-202). Lower than normal levels of transcript are found in brain and lower than normal levels of the Rorb2 transcript are found in the retina (J:337403)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 1 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
Carrying any Rorb Mutation:  41 strains or lines available
References
Original:  J:337403 Murray GC, et al., An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response. G3 (Bethesda). 2023 Jun 10;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory