The molecular lesion is a C-to-T transition at base pair 138,068,401 (GRCm38) on chromosome 1, or base pair 110,989 in the GenBank genomic region NC_000067. This corresponds to nucleotide 3,658 in the mRNA sequence NM_001111316, within exon 33 of 33 total exons; residue 3,339 in the mRNA sequence NM_011210, within exon 30 of 30 total exons; and residue 3,267 in the mRNA sequence NM_001268286, within exon 29 of 29 total exons. The mutation results in conversion of a codon for glutamine (Q) 1212 (isoform 1), Q1068 (isoform 2), or Q1047 (isoform 3) of the CD45 protein to a stop codon (Ter) (p.Q1212*/p.Q1068*/p.Q1047*). (J:216796)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
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

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PMID
Journal
Year
IF
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