This spontaneous 6 base pair deletion GCTCCG removed amino acids leucine and arginine from positions 259 and 260 (p.(Leu259_Arg260del)). (J:301674)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Spontaneous
Intragenic deletion
Recessive
1
1
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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