Breeding of Mitftm1.1Arnh mice led to several instances of phenotypic reversion. Genomic analysis revealed in that all cases the intragenic duplication event of 85,222 bp of wild-type gene sequence was lost, leaving in place the targeted mutation of amino acid 73 from serine to alanine (S73A) in exon 2B. (J:130168)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
16
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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