|
|
| Nomenclature |
|
Symbol:
|
Add2tm1Llp
|
|
Name:
|
adducin 2 (beta);
targeted mutation 1, Luanne L Peters
|
|
MGI ID: |
MGI:2149065 |
|
Synonyms: |
band 3-, beta-adducin- |
|
Gene:
|
Add2
Location:
Chr6:86078084-86119555 bp, + strand
Genetic Position: Chr6,
37.55 cM
|
|
Red blood cell and histological spleen comparison of Add2tm1Llp/Add2tm1Llp and +/+ wildtype mouse.
Show the 1 image(s) involving this allele.
|
 |
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:71029
|
|
Parent Cell Line:
| J1 (ES Cell) |
|
Strain of Origin:
|
129S4/SvJae
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A neomycin resistance cassette replaced a genomic fragment containing exons 9 to 13. Western blot analysis did not detect protein in RBC ghosts from homozygous mutant mice. Northern blot analysis using a probe for exons 9 to 12 did not detect transcript in homozygous mutant brain, spleen, or kidney. Northern blots using a neoR gene probe indicated that in homozygous mutant mice, transcripts are produced from antisense neoR sequence, and in spleen membranes the 4kb chimeric transcript is translated into a 55kDa protein that is detectable by Western blot. RT-PCR analysis detected a transcript that is a direct splice from exon 8 to exon 14, and which in homozygous mutant brain and spleen does not produce a polypeptide that is detectable by Western blot analysis. (J:71029)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:71029
Gilligan DM et al.,
"Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice."
Proc Natl Acad Sci U S A 1999 Sep 14;96(19):10717-22
|
|
All: |
9 reference(s)
|
|
Analysis Tools
