On the basis of a series of southern blots, this mutation appears to involve a 1.1 kb intragenic deletion. Gene transcripts could be detected by RT-PCR. Sequence analysis of these transcripts identified a 150 bp deletion corresponding to nucleotides 2456-2585. The deletion results in a frame shift which introduces a stop codon at the beginning of the neck region. (J:29898)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B10.HA/(33NX)Sn
Spontaneous
Intragenic deletion
Recessive
1
7
32

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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