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Phenotypes Associated with This Genotype
Genotype
MGI:3716448
Allelic
Composition
Gjd2tm1Kwi/Gjd2tm1Kwi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjd2tm1Kwi mutation (1 available); any Gjd2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• mutant beta cells show different excitability from control cells; whole-cell conductance is markedly decreased in Gja9-null beta cells
• insulin release from beta cells in response to high glucose declines with a significantly longer time constant than in control cells; cells release insulin in response to a much wider glucose concentration than control cells do

digestive/alimentary system
N
• beta cells from mutants, heterozygotes, and wild-type exhibit similar cell capacitance, indicating similar cell size

behavior/neurological
N
• normal motor performance using an "Erasmus box" test
• step time is significantly increased during conditioning in an "Erasmus box" test
• timing of responses worsens in the course of conditioning in an eye-blink conditioning test

nervous system
• Purkinje climbing fiber show both short and long latency responses in eye-blink tests unlike controls where only short latency responses are seen
• 60% show short latency, 34% show long latency, and 6% show both
• increased numbers of doublets during spontaneous activity in the awake state
• more olivary cells likely to lack subthereshold oscillations in whole cell recordings
• subthreshold oscillations with slightly larger amplitudes than controls

homeostasis/metabolism
• insulin release from beta cells in response to high glucose declines with a significantly longer time constant than in control cells; cells release insulin in response to a much wider glucose concentration than control cells do


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
03/25/2025
MGI 6.24
The Jackson Laboratory