A 13 bp deletion (GATGCGACCCTGT) is present in exon 7. RT-PCR analysis detected 4 different transcripts in homozygous mice, the expected 13 bp deletion (type 1), a 75 bp deleted version that includes the 13 bp deletion (type 2), a version lacking all of exon 3 (type 3) and a version lacking exons 3 and 4 (type 4) both also having the 13 bp deletion in exon 7. Some clones of types 1, 3 , and 4 also include partial or complete retention of introns 9 or 10. The type 1, 3, and 4 transcripts are predicted to result in a frameshift and premature termination at amino acid residue 281, 57 , and 63, respectively. The type 2 transcript is predicted to create a 25 amino acid deletion spanning residues 270 - 294. (J:156192)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(STOCK Pou1f1dw x T(8;16)17H)F1
Spontaneous
Intragenic deletion
Recessive
1
1
5

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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