一个包含PGK-puro标记和9-12号基因区段重复的10kb载体被插入在12号外显子下游。这个插入预测会导致多个内切终止密码子的插入,从而产生一个无功能等位基因。逆转录PCR确认了突变体中没有转录本,推断可能为严重发育不良或完全致病的基因型。(来源:J:120824)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Duplication, Insertion
--
1
--
17

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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