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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Add2tm1Llp
targeted mutation 1, Luanne L Peters
MGI:2149065
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Add2tm1Llp/Add2tm1Llp B6.129S4-Add2tm1Llp/LlpJ MGI:3664938
hm2
Add2tm1Llp/Add2tm1Llp involves: 129S4/SvJae * C57BL/6J MGI:3664740
cx3
Add2tm1Llp/Add2tm1Llp
Add3tm1.2Llp/Add3tm1.2Llp
involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J * FVB/N MGI:4462409


Genotype
MGI:3664938
hm1
Allelic
Composition
Add2tm1Llp/Add2tm1Llp
Genetic
Background
B6.129S4-Add2tm1Llp/LlpJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Add2tm1Llp mutation (1 available); any Add2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• exhibit impaired performance on the contextual fear conditioning task, showing decreased freezing in response to the context-paired previously with foot shock cue
• exhibit impaired performance on cued fear conditioning task showing decreased freezing in response to the shock-paired auditory cue
• exhibit impaired performance in the water maze as shown by increased travel distance before finding the platform and slightly longer time to find the platform on the second and subsequent training days
• in a probe trial, spend equivalent amounts of time in each quadrant compared to wild-type which spend 50% of the time in the quadrant containing the platform

nervous system
• CA1 short- and long-term synaptic plasticity is impaired, with significantly stronger input-output relationships in hippocampal slices
• show impaired tetanic long-term potentiation in the SC-CA1 hippocampal circuit
• immediately after two 1 s trains of 100 Hz stimulation, post-tetanic potential is slightly more robust than in wild-type hippocampal slices, and responses decay to baseline within 90 min while they remain potentiated for the duration of the experiment in wild-type
• exhibit slightly enhanced paired-pulse facilitation at the 150s interstimulus interval




Genotype
MGI:3664740
hm2
Allelic
Composition
Add2tm1Llp/Add2tm1Llp
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Add2tm1Llp mutation (1 available); any Add2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Red blood cell and histological spleen comparison of Add2tm1Llp/Add2tm1Llp and +/+ wildtype mouse.

growth/size/body

hematopoietic system
• the amount of alpha adducin in red blood cell membranes is reduced to 20% of normal levels while there is a 5-fold increase in gamma adducin and there are many red blood cells of reduced size and abnormal shapes including spherocytes, spherostomatocytes, and rounded elliptocytes
• hematocrit of 47.8% compared with 51.4% in wild-type controls (J:161920)
• red blood cells are smaller and show a variety of shapes, including spehrocytes, spherostomatocytes, and rounded elliptocytes (J:71029)
• red blood cells are smaller
• reticulocyte percentages are increased, indicating a compensatory acceleration of red blood cell production in response to chronic hemolysis (J:71029)
• the reticulocyte percentage is increased to 4.3% versus 2.8% in wild-type controls (J:161920)
• iron deposition is increased in the spleen
• red blood cells are osmotically fragile and dehydrated (as indicated by decreased potassium and sodium content)
• red blood cells show decreased levels of alpha-adducin (Add1) and increased levels of gamma-adducin (Add3)
• increased red blood cell fragility as assessed by both osmotic lysis and ektacytometry

homeostasis/metabolism
• iron deposition is increased in the spleen
• iron deposition is increased in the kidney
• iron deposition is increased in the liver

immune system
• iron deposition is increased in the spleen

liver/biliary system
• iron deposition is increased in the liver

renal/urinary system
• iron deposition is increased in the kidney

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary spherocytosis type 1 DOID:0110916 OMIM:182900
J:71029




Genotype
MGI:4462409
cx3
Allelic
Composition
Add2tm1Llp/Add2tm1Llp
Add3tm1.2Llp/Add3tm1.2Llp
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Add2tm1Llp mutation (1 available); any Add2 mutation (31 available)
Add3tm1.2Llp mutation (1 available); any Add3 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• additional disruption of the gamma adducin gene does not exacerbate the phenotype of the beta adducin knockout and the changes in hematological values, altered red blood cell shapes and size, reticulocytosis, decreased hematocrit, and increased red blood cell fragility are the same, although the alpha adducin levels in red blood cell membranes is reduced to an almost undetectable level and the level in brain and spleen is reduced to half normal levels
• the increase in red blood cell fragility as assessed by osmotic lysis and ektacytometry is the same as in beta adducin knockouts





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory