Three molecular changes have been identified in this allele. A 2 kb deletion encompasses exons 2 and 3 including the translation initiation sequence. An inversion exceeding 40 kb encompasses much of the coding region. An additional 0.5 kb sequence downstream of the inverted 40 kb has been duplicated and inserted in reverse orientation just upstream of this 40 kb inversion. Northern blots of adipose tissue extracts failed to detect mRNA from mice homozygous for this allele. (J:66739)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cByJ
Spontaneous
Insertion, Intragenic deletion, Inversion
Recessive
1
2
34

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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