Exons 12 throught 46 cannot be detected by PCR and are likely deleted, with the possibility of a large DNA insertion in their place. Northern blot analysis of brain RNA derived from homozygous mice demonstrated that an aberrant smaller transcript was expressed from this allele. Southern blot analysis indicated that a deletion or rearrangement of part of the gene had occurred in mutant mice. (J:26733, J:104061, J:120587)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cByJ
Spontaneous
Other
Not Specified
1
4
8

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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