A single G nucleotide insertion into a string of 6 guanines within exon 2 causes a frame shift with the first 227 amino acids normal, followed by 9 altered amino acids then a premature stop codon. (J:184204)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid H2-K1b-tm1Bpe H2-D1b-tm1Bpe/Sz
Spontaneous
Insertion
Recessive
1
4
--

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

Title
PMID
Journal
Year
IF
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