About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ank2tm1Bnt
targeted mutation 1, Vann Bennett
MGI:2179754
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ank2tm1Bnt/Ank2tm1Bnt involves: 129 MGI:5431705
hm2
Ank2tm1Bnt/Ank2tm1Bnt involves: 129X1/SvJ * C57BL/6 MGI:2181775
ht3
Ank2tm1Bnt/Ank2+ involves: 129 MGI:4830468


Genotype
MGI:5431705
hm1
Allelic
Composition
Ank2tm1Bnt/Ank2tm1Bnt
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ank2tm1Bnt mutation (1 available); any Ank2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• axon initial segments are normal




Genotype
MGI:2181775
hm2
Allelic
Composition
Ank2tm1Bnt/Ank2tm1Bnt
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ank2tm1Bnt mutation (1 available); any Ank2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small body size in Ank2tm1Bnt/Ank2tm1Bnt mouse compared to wild type

mortality/aging
• over half of homozygotes are moribund (and therefore killed) at P1
• 95% of remaining homozygotes die by P8; only a few (4 out of 8) survive to P20

behavior/neurological
• homozygotes that survive to 2 weeks of age exhibit impaired balance
• homozygotes that survive to 2 weeks of age exhibit abnormal locomotor activity

growth/size/body
• homozygotes that survive to 2 weeks of age exhibit a 75% reduction in body weight relative to wild-type littermates

vision/eye
• at P9, many mutant optic nerve axons become dilated with diameters up to 8-fold greater than normal, and contain multivescicular bodies
• axon fasciculation is also impaired with frequent loss of direct axon-axon contacts
• a nearly complete degeneration of the optic nerve is noted by P21
• disruption of secondary lens fiber organization at anterior pole (J:52124)
• organization of secondary lens fibers at the anterior pole was severely disturbed at postnatal day 1 (J:70385)

nervous system
• at P1, homozygotes show a 7-fold enlargement of the lateral ventricles
• enlargement of lateral ventricles is not associated with occlusion of the cerebral aqueduct
• at P1-P5, ~61.5% homozygotes display a size reduction or absence of the corpus callosum; a nearly complete absence of the anterior portion is observed
• the corpus callosum cannot be visualized in parasagittal sections and appears greatly reduced in coronal sections of mutant brain
• at P1, homozygotes exhibit a size reduction or absence of the internal capsule
• at P1, homozygotes exhibit hypoplasia or absence of the pyramidal tracts
• at P1, homozygotes exhibit hypoplasia or absence of the pyramidal tracts
• homozygotes display decreased L1 staining in premyelinated axons of long fiber tracts, including the corpus callosum, fimbria, and internal capsule in the brain, and pyramidal tracts and lateral columns of the spinal cord
• L1 staining is unreduced in the mutant optic nerve at P1-P3 but disappears by P7, although the optic nerve itself is still present
• at P9, many mutant optic nerve axons become dilated with diameters up to 8-fold greater than normal, and contain multivescicular bodies
• axon fasciculation is also impaired with frequent loss of direct axon-axon contacts
• a nearly complete degeneration of the optic nerve is noted by P21




Genotype
MGI:4830468
ht3
Allelic
Composition
Ank2tm1Bnt/Ank2+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ank2tm1Bnt mutation (1 available); any Ank2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• in isoproterenol-treated mice
• isoproterenol-treated mice exhibit disorganized shifts of the leading pacemaker and competing multiple pacemakers compared with similarly treated wild-type mice
• acetylcholine-treated mice exhibit reduced sensitivity of pacemaker function compared with similarly treated wild-type mice

homeostasis/metabolism
• isoproterenol-treated mice exhibit increased heart rate variability, a larger beat-to-beat variability, disorganized shifts of the leading pacemaker, and competing multiple pacemakers compared with similarly treated wild-type mice
• acetylcholine-treated mice exhibit reduced sensitivity of pacemaker function compared with similarly treated wild-type mice

adipose tissue
• mouse embryonic fibroblasts exhibit increased adipogenesis with both increased in adipocyte numbers and enlarged lipid droplets compared with wild-type cells.
• decreased basal adipocyte glucose uptake
• however, insulin-stimulated uptake is normal

cellular
• mouse embryonic fibroblasts exhibit increased adipogenesis with both increased in adipocyte numbers and enlarged lipid droplets compared with wild-type cells.
• decreased basal adipocyte glucose uptake
• however, insulin-stimulated uptake is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sinoatrial node disease DOID:0050824 J:163867





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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/10/2019
MGI 6.14
The Jackson Laboratory