Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Add2tm1Llp Name: adducin 2; targeted mutation 1, Luanne L Peters MGI ID: MGI:2149065 Synonyms: band 3-, beta-adducin- Gene: Add2  Location: Chr6:86005663-86101391 bp, + strand  Genetic Position: Chr6, 37.55 cM Alliance: Add2tm1Llp page

Red blood cell and histological spleen comparison of Add2tm1Llp/Add2tm1Llp and +/+ wildtype mouse. Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:71029
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Allele Type:    Targeted (Null/knockout) 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Add2 Mutation:	43 strains or lines available

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:	11 reference(s)