Overview

This strain is extinct, please refer to Stock No. 001490.

Donating Investigator

Dr. Bo Chang, JAX

Genetic overview

Genetic Background	Generation
000664 C57BL/6J

Gja8^Lop10

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gja8	gap junction protein, alpha 8

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Research Applications

Developmental Biology Research
Sensorineural Research

View All Research Applications

Details

Detailed Description

The lens opacity 10 mutation in Gja8 is semidominant. Homozygotes are microphthalmic with foamy cataract of the entire lens apparent when the eyes open at 12 days of age and increasing in opaqueness with age. Bladder cells are found adjacent to the anterior and posterior subcapsular regions of the lens before birth, the lens nucleus begins to liquefy by 4 days of age and ruptures posteriorly, then the lens capsule thickens. Gja8^Lop10 Heterozygotes are not microphthalmic and the phenotype associated with the mutation varies according to the genetic background. A nuclear haze or snowflake nuclear opacity is found in F1 heterozygotes of some backgrounds while a more severe dense nuclear opacity is evident by 4 weeks of age in F1 heterozygotes of other backgrounds including AKR/J and BALB/cJ. The F1 heterozygote from C57BL/6J has a more mild phenotype with clear lenses at 4 weeks of age and snowflake nuclear opacity developing later. Mice homozygous for the Gja8^tm1Paul targeted mutation, a recessive mutation in which the entire coding region is removed, do not display posterior lens rupture. Additionally, there is a decrease in phosphorylated Gja3 in lens extracts from Gja8^Lop10 homozygotes and mice doubly homozygous for Gja8^Lop10 and a targeted mutation disrupting Gja3 have a less severe phenotype than that of Gja8^Lop10 homozygotes. (Runge et al., 1992; Chang et al., 2002.)

Development

The Lop10 mutation arose spontaneously in the offspring of a BALB/cJ x AKR/J cross at The Jackson Laboratory. It was backcrossed three times to BALB/cJ then maintained by sibling mating. This mutation was later backcrossed onto the C57BL/6J background. At N3 it was made homozygous and after several generations of sibling breeding was subsequently backcrossed 3 more generations to N6 before again being made homozygous.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Gja8^Lop10

Allele Symbol: Gja8^Lop10

Allele Name	lens opacity 10
Allele Type	Spontaneous
Allele Synonym(s)	G22R; Lop10
Gene Symbol and Name	Gja8, gap junction protein, alpha 8
Gene Synonym(s)
Strain of Origin	BALB/cJ x AKR/J
Chromosome	3
General Note	In homozygous mutant mice, eyes are microphthalmic, with a dense white cataract present when eyelids opened at the age of 12 days. Histologic changes could be traced back to the 18th day of gestation. Liquefaction of lens contents had begun by 4 days of age, with posterior herniation by 11 days old. Expression in heterozygotes varied with age and with strain of origin (J:4160).
Molecular Note	The mutation in the lens opacity 10 mouse was identifed as a G-to-C missense mutation (C-to-G on forward strand) in the gene, which causes a glycine to arginine substitution at codon 22 of the encoded protein (p.G22R).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Developmental Biology Research
- Eye Defects
Sensorineural Research
- Cataracts
  - nuclear

Genotype: Gja8^Lop10 related

Developmental Biology Research
- Eye Defects
Sensorineural Research
- Eye Defects
- Cataracts
  - lens extrusion

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Gja8^Lop10/Gja8^Lop10
C;AK-Gja8/J

vision/eye phenotype

abnormal lens development
- at 3 weeks of age the lens has only only small gap junction plaques

abnormal lens fiber morphology
- although the secondary fibers of the bow region defferentiate normally, the fibers in the deeper regions are severely disrupted by one day of age

cataract
- at 1 day of age small bladder cells are found axially adjacent to the posterior lens capsule, which is of normal thickness, by 2 days of age bladder cells are found adjacent to both the anterior and posterior axial subcapsular regions, and by 4 days of age the lens nucleus begins to liquify and the lens contents begin to displace posteriorly; by 11 days of age the lens capsule has a marked thickening with the lens contents herniated posteriorly, and when the eyes open at 12 days of age lens opacity is evident
- dent
- e the lens nucleus begins to liquify and the lens contents begin to displace posteriorly; by 11 days of age the lens capsule has a marked thickening with the lens contents herniated posteriorly, and when the eyes open at 12 days of age lens opacity is evi

microphthalmia

ruptured lens capsule

Genotype: Gja8^Lop10/Gja8⁺
C;AK-Gja8/J

vision/eye phenotype

nuclear cataracts
- Background Sensitivity - fetal nuclear cataract with background dependent variability in expressivity, with dense nuclear opacity at 4 weeks of age on the BALB/cJ and AKR/J mixed background; a less severe phenotype of snowflake opacity with a later onset of 3 months of age is found when outcrossed to some other genetic backgrounds, particularly those of the C57BL group
- Background Sensitivity - nd when outcrossed to some other genetic backgrounds, particularly those of the C57BL group

References

Additional References

Chang B; Wang X; Hawes NL; Ojakian R; Davisson MT; Lo WK; Gong X. 2002. A Gja8 (Cx50) point mutation causes an alteration of alpha3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet 11(5):507-13PubMed: 11875045 MGI: J:75387

Additional - Gja8^Lop10 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Mating System
- Homozygote x Homozygote
Appearance
- black
  Related Genotype: a/a

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

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Email: TechTran@jax.org

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Donating Investigator

Genetic overview

Research Applications

Detailed Description

Development

Control Suggestions

Additional Information

Gja8Lop10

Allele Symbol: Gja8Lop10

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Gja8Lop10 related

Mammalian Phenotype Terms by Genotype

Genotype: Gja8Lop10/Gja8Lop10C;AK-Gja8/J

vision/eye phenotype

Genotype: Gja8Lop10/Gja8+C;AK-Gja8/J

vision/eye phenotype

References

Additional References

Additional - Gja8Lop10 related

Genotyping Protocols

Mating System

Appearance

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Gja8^Lop10

Allele Symbol: Gja8^Lop10

Genotype: Gja8^Lop10 related

Genotype: Gja8^Lop10/Gja8^Lop10
C;AK-Gja8/J

Genotype: Gja8^Lop10/Gja8⁺
C;AK-Gja8/J

Additional - Gja8^Lop10 related