Phenotypes Associated with This Genotype

Genotype
MGI:2176492

• Allelic Composition: Gja8^tm1Paul/Gja8^tm1Paul
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Nuclear cataracts in Gja8^tm1Paul/Gja8^tm1Paul mice

vision/eye

abnormal eye morphology ( J:50894 )

• early postnatal eye and lens growth is severely deficient and pathological changes become evident at P7

abnormal lens fiber morphology ( J:50894 )

• EM measurements of fiber diameter in the equatorial regions of wild-type and mutant lenses show no significant differences in fiber size, suggesting fewer lens fibers due to a reduced rate of cell division

cataract ( J:50894 )

• at 2 weeks of age, mutant lenses display an irregular and diffuse nuclear opacity not present in control lenses

• by 6 months of age, mutant lenses show a fine particulate precipitate confined to the nucleus, which is typical of zonular pulverulent cataracts

• in addition, a sharply defined line of unknown nature is found in the inner cortical region of the mutant lens

small lens ( J:50894 )

• lenses dissected from adult male homozygotes are 46% smaller than lenses from control littermates

abnormal eye development ( J:50894 )

• at P0, mutant eye mass is identical to that of controls but is decreased 18% by P7

• by P14, the mutant eye mass is only 68% that of control, and remains constant for at least 4 months

• notably, the eye growth rate continues to decrease for 1 week after the lens growth rate has stabilized

abnormal lens development ( J:50894 )

• at P0, mutant lens mass is identical to that of controls but is reduced to only 56% that of control by P7, and remains constant thereafter

• at P7, mutant lenses show a large clear zone composed of fiber cells that lack the normal eosinophilic staining in the nuclear region

• however, at E16.5, mutant lenses appear normal in terms of size and integrity relative to control lenses

• dye injection studies revealed no significant differences in lens intercellular communication at developmental stages prior to cataract formation

microphthalmia ( J:50894 )

• eyes dissected from adult male homozygotes are 32% smaller than eyes from control littermates

• however, no significant differences are observed in overall postnatal growth, average mass of adult mutant animals, their kidneys or testes relative to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 1 multiple types		DOID:0110231	OMIM:116200	J:50894