Add2tm1Llp
Targeted Allele Detail
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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
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Alliance: |
Add2tm1Llp page
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Red blood cell and histological spleen comparison of Add2tm1Llp/Add2tm1Llp and +/+ wildtype mouse.
Show the 1 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:71029
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Parent Cell Line: |
J1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | | | | | involves: 129S4/SvJae * C57BL/6J | | | | involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J * FVB/N | |
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Phenotypes: |
Affected Systems |
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behavior/neurological
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abnormal contextual conditioning behavior
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abnormal cued conditioning behavior
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abnormal spatial learning
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growth/size/body
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enlarged spleen
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hematopoietic system
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enlarged spleen
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anemia
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abnormal erythrocyte morphology
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decreased hematocrit
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increased mean corpuscular hemoglobin concentration
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decreased mean corpuscular volume
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anisopoikilocytosis
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microcytosis
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spherocytosis
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√
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reticulocytosis
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√
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increased spleen iron level
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√
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abnormal erythrocyte physiology
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√
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increased erythrocyte osmotic fragility
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√
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homeostasis/metabolism
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√
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increased spleen iron level
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√
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increased kidney iron level
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increased liver iron level
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√
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immune system
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√
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enlarged spleen
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√
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increased spleen iron level
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√
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liver/biliary system
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√
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increased liver iron level
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nervous system
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impaired synaptic plasticity
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√
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abnormal CNS synaptic transmission
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√
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reduced long-term potentiation
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increased post-tetanic potentiation
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enhanced paired-pulse facilitation
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renal/urinary system
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√
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increased kidney iron level
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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Key: |
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disease model |
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expected model not found |
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Models:
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Human Diseases |
IDs
hereditary spherocytosis type 1
Close
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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) |
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