The locus maps 0.5 cM distal to the marker D14Mit259. No mutations were identified in the coding region or 5' and 3' untranslated regions on the single candidate gene to account for the 70% to 80% reduction in transcript and protein expression confirmed by northern and western blot analysis of E12.5 brain extracts. Authors speculate that the ENU mutation must reside in an intronic or regulatory sequence. (J:142500)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S4-Mapttm1(EGFP)Klt
Chemically induced
Not Specified
Recessive
1
1
2

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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