All Phenotypes Gjd2<tm4Kwi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gjd2^tm4Kwi
targeted mutation 4, Klaus Willecke
MGI:3835284

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjd2^tm4Kwi/Gjd2^tm4Kwi	involves: 129P2/OlaHsd * C57BL/6	MGI:5141706
cn2	Gjd2^tm2Kwi/Gjd2^tm4Kwi Tg(Pvalb-cre)1Mony/?	involves: 129P2/OlaHsd	MGI:3835327
cn3	Gjd2^tm4Kwi/Gjd2^tm4Kwi Tg(Ins2-cre)23Herr/?	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5141707

Allelic Composition	Gjd2^tm4Kwi/Gjd2^tm4Kwi
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjd2^tm4Kwi mutation (1 available); any Gjd2 mutation (23 available)

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

vision/eye

vision/eye phenotype ( J:174834 )

N	• although mRNA in the brain and protein in the retina are reduced to around 50% of control levels, retinal neuron function is apparently unaffected

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:174834 )

N	• basal insulin secretion is normal

Allelic Composition	Gjd2^tm2Kwi/Gjd2^tm4Kwi Tg(Pvalb-cre)1Mony/?
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjd2^tm2Kwi mutation (1 available); any Gjd2 mutation (23 available)
Gjd2^tm4Kwi mutation (1 available); any Gjd2 mutation (23 available)
Tg(Pvalb-cre)1Mony mutation (0 available)

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

behavior/neurological

behavior/neurological phenotype ( J:145292 )

N	• gene disruption occurs in GABAergic neurons but expression is normal in olivary neurons • responses during eye-blink conditioning is normal

Allelic Composition	Gjd2^tm4Kwi/Gjd2^tm4Kwi Tg(Ins2-cre)23Herr/?
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjd2^tm4Kwi mutation (1 available); any Gjd2 mutation (23 available)
Tg(Ins2-cre)23Herr mutation (1 available)

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

endocrine/exocrine glands

abnormal pancreatic beta cell physiology ( J:174834 )

• Cx36 channels are non functional as determined by "tracer" studies (beta cells are uncoupled)

increased insulin secretion ( J:174834 )

• increased basal secretion of insulin

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:174834 )

N	• normal in vivo tolerance for acute glucose load • normal responsiveness to high glucose levels (16mM)

increased insulin secretion ( J:174834 )

• increased basal secretion of insulin

abnormal glucose tolerance ( J:174834 )

• do not respond to physiological concentrations of glucose

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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