Exon 4 was targeted by introduction of TALEN mRNA into fertilized C57BL/6J oocytes and the resulting founder screened and found to have a 1 base pair deletion at Chromosome 5 base 90,464,113 (GRCm38.p2) which is predicted to result in a frame shift then a premature stop codon 55 amino acids downstream of the encoded frame shift. By ELISA, heterozgyotes have a decrease in serum albumin of approximately 30 percent and homozygotes have no detectable serum albumin. (J:220803)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Intragenic deletion, Single point
--
1
5
5

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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