The molecular lesion is an A to T transversion at base pair 70,615,130 (v38) on chromosome 11, or base pair 4,501 in the GenBank genomic region NC_000077. The mutation is located within intron 11, two nucleotides from the next, and final, exon (exon 12). It is not yet known how the pip-squeak mutation affects splicing of the gene. The locations of putative cryptic acceptor sites within exon 12 are unknown. (J:216046)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
7
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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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