This mutation was isolated during the production of an unrelated transgenic line. Both the hb mutation and the transgene insertion site map to a similar chromosomal location, suggesting that the transgene insertion disrupts the normal function of a gene resulting in the phenotype. The transgene contains the human ACTB promoter, exon 1 and intron 1 and a neomycin resistance cassette. A 648 kb deletion on chromosome 7 results in the loss of Gpr26, Cpxm2 and Chst15) and an indirect long range effect on the expression of neighboring genes including Hmx3, Hmx2 and Nkx1.2. (J:197180, J:199713)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB
--
Insertion
Recessive
--
--
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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