This 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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S7-Il1r1tm1Imx/J
Spontaneous
Single point
Recessive
1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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