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The molecular lesion in Lrrc48 (NM_029044) is located at Chr11:60363569 bp (exon4: c.T266C: p.L89P). This is a missense mutation that substitutes proline for leucine. qRT-RCR analysis using primers for exon 89 confirmed a reduction of gene expression in the mutant to 34% of wild-type levels (P greater than 0.001). (J:199782, J:240195)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
