A retroposon insertion into exon 9 resulted in deletion of exon 9 (174 bp) in the alpha1 and alpha2 transcripts, and deletion of four nucleotides (including the putative initiation codon) and failure of intron 9 splicing in the alpha3 transcript. Partial rescue of the locomotor phenotype with an alpha-chimerin Tg was used as evidenct that Chn was the causal gene of the mutation. (J:125703)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Spontaneous
Transposon insertion
--
1
3
3

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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