Sentences with word «hemizygous»

Deletion of the gene was not lethal and there was no overt phenotype either in hemizygous males -LRB-- / y) or in homozygous females -LRB-- / --RRB-.

Similar to hemizygous TTD mice carrying one true Xpd knockout allele (XpdTTD / KO), compound heterozygous XpdTTD / † XPCS mice were born at the expected Mendelian frequencies.

XpdTTD / KO hemizygous cells were thus used as the baseline on which to compare the activity of compound heterozygous cells.

In the third type of biallelic effect, known as interallelic complementation, two mutant alleles produced a phenotype closer to wt than either could alone in a homo - or hemizygous state.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Less than half of patients are 22q11 hemizygous.

Despite reduced levels of mRNA expression, the homozygous lethal Xpd † XPCS allele ameliorated multiple XpdTTD - associated disease symptoms in compound heterozygous XpdTTD / † XPCS animals including the hallmark brittle hair and cutaneous features fully penetrant in homo - and hemizygous TTD mice (Figure 2A — 2C).

(A) Genotype documentation of - / y hemizygous males and - / - homozygous females; evidence of Slc6a14 deletion in colon and lung tissues from - / y hemizygous males and - / - homozygous females; expression of Slc6a14 in colon (C) and lung (L) but not in mammary gland (M) in wild - type (WT) female mice.