All Phenotypes Gja8<R205G> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gja8^R205G
Arg205Gly
MGI:5489751

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja8^R205G/Gja8^R205G	B6.Cg-Gja8^R205G	MGI:5489760
hm2	Gja8^R205G/Gja8^R205G	CWXS/Agl-Gja8^R205G	MGI:5490033
hm3	Gja8^R205G/Gja8^R205G	involves: 129S4/SvJae * CWD/LeAgl * SJL/J	MGI:5489763
ht4	Gja8^R205G/Gja8⁺	B6.Cg-Gja8^R205G	MGI:5489759
ht5	Gja8^R205G/Gja8⁺	CWXS/Agl-Gja8^R205G	MGI:5490032
ht6	Gja8^R205G/Gja8^tm1Scr	involves: 129S1/Sv * 129X1/SvJ * CWD/LeAgl * SJL/J	MGI:5489761
cx7	Gja3^tm1Scr/Gja3^tm1Scr Gja8^R205G/Gja8^R205G	involves: 129S4/SvJae * CWD/LeAgl * SJL/J	MGI:5489762
ot8	Gja8^R205G/?	involves: CWD/LeAgl * SJL/J	MGI:5489764

Allelic Composition	Gja8^R205G/Gja8^R205G
Genetic Background	B6.Cg-Gja8^R205G

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

Dense nuclear cataracts in Gja8^R205G/Gja8^R205G and Gja8^R205G/Gja8^R205G Gja3^tm1Scr/Gja3^tm1Scr mice but degenerating peripheral lens fibers only in Gja8^R205G/Gja8^R205G mice

vision/eye

lens vacuoles ( J:195727 )

• aberrant vacuole-like structures in the lens periphery

nuclear cataract ( J:195727 )

• dense

small lens ( J:195727 )

microphthalmia ( J:195727 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 1 multiple types		DOID:0110231	OMIM:116200	J:195727

Allelic Composition	Gja8^R205G/Gja8^R205G
Genetic Background	CWXS/Agl-Gja8^R205G

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

Dense nuclear cataracts in heterozygous and homozygous Gja8^R205G mice and microphthalmia in homozygotes

vision/eye

nuclear cataract ( J:195727 )

• dense

microphthalmia ( J:195727 )

Allelic Composition	Gja8^R205G/Gja8^R205G
Genetic Background	involves: 129S4/SvJae * CWD/LeAgl * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

vision/eye

lens vacuoles ( J:195727 )

• aberrant vacuole-like structures or enlarged extracellular spaces in the peripheral regions

abnormal lens fiber morphology ( J:195727 )

• severely disrupted peripheral fiber cell organization with vacuoles and fiber degeneration

nuclear cataract ( J:195727 )

• dense

Allelic Composition	Gja8^R205G/Gja8⁺
Genetic Background	B6.Cg-Gja8^R205G

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

vision/eye

nuclear cataract ( J:195727 )

small lens ( J:195727 )

• slightly

Allelic Composition	Gja8^R205G/Gja8⁺
Genetic Background	CWXS/Agl-Gja8^R205G

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

Dense nuclear cataracts in heterozygous and homozygous Gja8^R205G mice and microphthalmia in homozygotes

vision/eye

nuclear cataract ( J:195727 )

• dense

Allelic Composition	Gja8^R205G/Gja8^tm1Scr
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * CWD/LeAgl * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)
Gja8^tm1Scr mutation (0 available); any Gja8 mutation (33 available)

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

Microphthalmia and small lenses with dense nuclear cataracts in Gja8^R205G/Gja8^tm1Scr mice

vision/eye

nuclear cataract ( J:195727 )

• dense

microphthalmia ( J:195727 )

Allelic Composition	Gja3^tm1Scr/Gja3^tm1Scr Gja8^R205G/Gja8^R205G
Genetic Background	involves: 129S4/SvJae * CWD/LeAgl * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja3^tm1Scr mutation (0 available); any Gja3 mutation (17 available)
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

Dense nuclear cataracts in Gja8^R205G/Gja8^R205G and Gja8^R205G/Gja8^R205G Gja3^tm1Scr/Gja3^tm1Scr mice but degenerating peripheral lens fibers only in Gja8^R205G/Gja8^R205G mice

vision/eye

vision/eye phenotype ( J:195727 )

N	• mice exhibit normal lens periphery and lens fiber unlike in Gja8^Nm2249 homozygotes

nuclear cataract ( J:195727 )

• dense

Allelic Composition	Gja8^R205G/?
Genetic Background	involves: CWD/LeAgl * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja8^R205G mutation (1 available); any Gja8 mutation (33 available)

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

vision/eye

cataract ( J:156373 )

• fetal

microphthalmia ( J:156373 )

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