CRISPR/Cas9 technology generated a single nucleotide deletion in the ABC domain and introduced a stop codon following addition of one nonnative amino acid residue (LPKTRSGKIMRR... to LPKTRSGKIS*). Immunohistochemistry shows that protein is present at minimal or undetectable levels in the kidney and liver, respectively and mRNA levels are reduced in kidney and liver. (J:312521)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Endonuclease-mediated
Single point
--
1
1
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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