Pik3cdm1Btlr
Chemically induced Allele Detail
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Symbol: |
Pik3cdm1Btlr |
Name: |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta; mutation 1, Bruce Beutler |
MGI ID: |
MGI:5582742 |
Synonyms: |
stinger |
Gene: |
Pik3cd Location: Chr4:149733625-149787023 bp, - strand Genetic Position: Chr4, 80.15 cM
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Alliance: |
Pik3cdm1Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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Mutation details: ENU mutagenesis induced a T to G transversion at base pair 149,657,319 (v38) on chromosome 4, or base pair 68,648 in the GenBank genomic region NC_000070. The mutation corresponds to residue 1447 in the mRNA sequence NM_001029837 within exon 8 of 23 total exons. The mutation results in a leucine (L) to arginine (R) substitution at position 390 (L390R).
(J:213049)
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Inheritance: |
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Recessive |
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Phenotypes: |
Affected Systems |
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immune system
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abnormal humoral immune response
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:213049 Arnold C, et al., Mutagenetix entry for stinger. MGI Direct Data Submission. 2014; |
All: |
1 reference(s) |
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