Gjb1^tm1Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb1^tm1Kwi
• Name: gap junction protein, beta 1; targeted mutation 1, Klaus Willecke
• MGI ID: MGI:1857927
• Synonyms: Cx32-
• Gene: Gjb1 Location: ChrX:100419984-100429235 bp, + strand Genetic Position: ChrX, 44.06 cM, cytoband D-F4
• Alliance: Gjb1^tm1Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:36146
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin resistance cassette was inserted into exon 2 of the gene, resulting in a stop codon 90 nucleotides after the translational start and a new start codon 15 base pairs further downstream. Northern blots of total liver RNA from homozygous mutant mice showed no detectable transcript for the gene. (J:36146)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129S4/SvJae
hm2  Disease Model	Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129S4/SvJae * C57BL/6
ht3	Gjb1^tm1Kwi/Gjb1^+	involves: 129S4/SvJae * C57BL/6
cx4  Disease Model	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
cx5  Disease Model	Gjb1^tm1Kwi/Y Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
cx6	Gjb1^tm1Kwi/Y Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi	involves: 129S4/SvJae * C57BL/6 * SJL
cx7	Gjc2^tm1Paul/Gjc2^tm1Paul Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129/Sv * C57BL/6
ot8  Disease Model	Gjb1^tm1Kwi/Y	involves: 129S4/SvJae
ot9  Disease Model	Gjb1^tm1Kwi/Y	involves: 129S4/SvJae * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	ht3	cx4		cx5	cx6	cx7	ot8	ot9
show or hide all annotated terms Sex:
behavior/neurological	N	N		√		√	√	√	N	N
behavior/neurological phenotype	N	N							N	N
abnormal motor capabilities/coordination/movement							√
tremors				√		√		√
ataxia							√
impaired coordination				√		√
abnormal gait				√		√
seizures				√
tonic seizures				√		√		√
sporadic seizures				√
cellular				√		√
abnormal oligodendrocyte apoptosis				√		√
growth/size/body		√								√
decreased body weight		√								√
hematopoietic system				√		√
microgliosis				√		√
homeostasis/metabolism										√
increased liver glycogen level										√
immune system				√	√	√
microgliosis				√		√
spinal cord inflammation				√		√
optic nerve inflammation				√	√	√
liver/biliary system		√								√
abnormal liver morphology		√
increased liver glycogen level										√
abnormal liver physiology										√
mortality/aging				√		√	√	√
premature death				√		√	√	√
nervous system	√	√	√	√	√	√	√	√	√	√
nervous system phenotype		N								N
seizures				√
tonic seizures				√		√		√
sporadic seizures				√
abnormal oligodendrocyte apoptosis				√		√
spinal cord inflammation				√		√
optic nerve inflammation				√	√	√
abnormal nervous system morphology	√	√	√						√	√
microgliosis				√		√
astrocytosis				√		√	√
abnormal oligodendrocyte morphology				√		√
abnormal Schwann cell morphology	√	√	√						√	√
abnormal axon morphology	√	√							√	√
abnormal myelin sheath morphology		√	√							√
absent optic nerve								√
neurodegeneration				√
axon degeneration				√		√
abnormal myelination	√			√			√	√	√
demyelination	√	√	√	√		√		√	√	√
dysmyelination				√		√
abnormal nerve conduction	√								√
vision/eye								√
absent optic nerve								√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	hm2	cx4	cx5	ot8	ot9
Charcot-Marie-Tooth disease X-linked dominant 1 IDs Charcot-Marie-Tooth disease X-linked dominant 1       DOID:0110209 ICD10CM:G60.0 OMIM:302800 ORDO:101075 Close	√	√			√	√
hypomyelinating leukodystrophy 2 IDs hypomyelinating leukodystrophy 2       DOID:0060787 ICD10CM:E75.2 OMIM:608804 ORDO:280282 Close			√	√

Expression

In Mice Carrying this Mutation:	1 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Gjb1^tm1Kwi

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gjb1 Mutation: 27 strains or lines available

References

• Original: J:36146 Nelles E, et al., Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci U S A. 1996 Sep 3;93(18):9565-70
• All: 84 reference(s)