Phenotypes associated with this allele

• Allele Symbol: Gjd2^tm1Kwi
• Allele Name: targeted mutation 1, Klaus Willecke
• Allele ID: MGI:2388389
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjd2^tm1Kwi/Gjd2^tm1Kwi	involves: 129P2/OlaHsd	MGI:3579581
hm2	Gjd2^tm1Kwi/Gjd2^tm1Kwi	involves: 129P2/OlaHsd * C57BL/6	MGI:3716448

Genotype
MGI:3579581

hm1

• Allelic Composition: Gjd2^tm1Kwi/Gjd2^tm1Kwi
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina ganglion layer morphology ( J:98181 )

• coupling pattern of alpha-ganglion cells to amacrine cells and other alpha-ganglion cells is absent, however homozygotes develop normally and showed no loss of ganglion cells

nervous system

abnormal nervous system electrophysiology ( J:99856 )

• correlated spiking is absent in mitral cell pairs from the same olfactory glomerulus

• mitral pairs are not electrically coupled; input resistance of mitral cells is higher than in wild-type cells

digestive/alimentary system

digestive/alimentary phenotype ( J:117402 )

N • pancreatic islets develop apparently normally in mutants

endocrine/exocrine glands

decreased insulin secretion ( J:117402 )

• insulin secretion is prevented at physiological concentrations of glucose (<8 mM), and is reduced at higher sugar levels (>16.7 mM)

homeostasis/metabolism

decreased insulin secretion ( J:117402 )

• insulin secretion is prevented at physiological concentrations of glucose (<8 mM), and is reduced at higher sugar levels (>16.7 mM)

Genotype
MGI:3716448

hm2

• Allelic Composition: Gjd2^tm1Kwi/Gjd2^tm1Kwi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

endocrine/exocrine glands

abnormal pancreatic beta cell physiology ( J:122093 )

• mutant beta cells show different excitability from control cells; whole-cell conductance is markedly decreased in Gja9-null beta cells

abnormal insulin secretion ( J:122093 )

• 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

digestive/alimentary phenotype ( J:122093 )

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

behavior/neurological

behavior/neurological phenotype ( J:145292 )

N • normal motor performance using an "Erasmus box" test

abnormal cued conditioning behavior ( J:145292 )

• 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

abnormal nerve fiber response ( J:145292 )

• 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

abnormal single cell response ( J:145292 )

• more olivary cells likely to lack subthereshold oscillations in whole cell recordings

• subthreshold oscillations with slightly larger amplitudes than controls

homeostasis/metabolism

abnormal insulin secretion ( J:122093 )

• 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