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
Intragenic deletion, Single point
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count