Add2^tm1Llp
Targeted Allele Detail

Summary

• Symbol: Add2^tm1Llp
• 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: Add2^tm1Llp page

Red blood cell and histological spleen comparison of Add2^tm1Llp/Add2^tm1Llp and +/+ wildtype mouse.

Show the 1 phenotype 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 (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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• 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

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: 11 reference(s)