Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names C3H/He-CrygeElo/J    (Changed: 13-MAR-08 ) C3H/He-CrygeCat2-Elo/J    (Changed: 12-JUL-05 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse

Description
Heterozygotes and homozygotes have microphthalmia with normal ocular structures except for the lens. Homozygotes are viable and fertile. At embryonic day 12 there is poor elongation of the basal cytoplasm of the central lens fibers and the lens cavity remains open. At embryonic day 13 the elongation of the lens fiber and the convex nuclear arrangement shows poor progression, the central lens fibers are deranged, and the lens fibers are detached from the capsule at the basal surface. At birth the lens is approximately half the normal size and is deformed, with the lens cavity remaining open. In heterozygotes and homozygotes the lens degenerates by 30 days of age.

Development
The eye lens obsolescence mutation arose spontaneously in 1969 in the 4th inbreeding generation of a cross between C57BL/6JNga and a pink-eyed dilution mouse originating from the Japanese fancy mice. An F6 heterozygote was outcrossed to C3Hf/He repeatedly, reaching N18 by 1979. In 1991 congenic homozygous cryopreserved embryos at generation F16 were imported into The Jackson Laboratory from Dr. Loren Skow at Texas A&M and cryorecovered for Dr. Tom Roderick. In 2006 the remaining cryopreserved embryos were recovered to replenish the frozen embryo population and embryos were generated for cryopreservation from their homozygous offspring at generation F17.

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Cataract, Autosomal Dominant - Models with phenotypic similarity to human disease where etiologies are distinct.2

2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Cryge^Elo/Cryge^Elo

        C3.Cg-Cryge^Elo

• vision/eye phenotype
• abnormal lens morphology   (MGI Ref ID J:6482)
• • abnormal lens development
    • lens fiber cells appeared to proliferate normally suggesting that the defect is in lens fiber differentiation and not cell proliferation   (MGI Ref ID J:1630)
  • abnormal lens fiber morphology
    • at E12, the central lens fibers do not properly elongate   (MGI Ref ID J:6481)
    • these fibers become necrotic by late fetal developmental stages   (MGI Ref ID J:6481)
  • small lens
    • by late fetal development stages, the lens is small and deformed   (MGI Ref ID J:6481)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Cryge^Elo/Cryge⁺

        involves: C57BL/6JNga

• vision/eye phenotype
• abnormal lens morphology
  • lens completely degenerates by 30 days of age   (MGI Ref ID J:15383)
• • abnormal lens development
    • lens is underdeveloped at birth   (MGI Ref ID J:15383)
• microphthalmia   (MGI Ref ID J:15383)

Cryge^Elo/Cryge^Elo

        involves: C57BL/6JNga

• vision/eye phenotype
• abnormal lens morphology
  • lens completely degenerates by 30 days of age   (MGI Ref ID J:15383)
• • abnormal lens development
    • lens is underdeveloped at birth   (MGI Ref ID J:15383)
• microphthalmia   (MGI Ref ID J:15383)

View Research Applications

Research Applications

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

Cryge^Elo related

Sensorineural Research
Cataracts
      nuclear

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		CrygeElo
Allele Name		eye lens obsolescence
Allele Type		Spontaneous
Common Name(s)		CrygeCat2-Elo; ELO;
Strain of Origin		(C57BL/6JNga x Japanese fancy mouse (Oca2 ))F4
Gene Symbol and Name		Cryge, crystallin, gamma E
Chromosome		1
Gene Common Name(s)		Cryg-6; Cryg5; Elo; Len; eye lens obsolescence; gamma crystalline 6;
Molecular Note		A single base (G) deletion at nucleotide position 403 (codon 135) in the fourth ""Greek key"" motif of the Cryge gene product, causes a frameshift mutation that can translate for another 11 amino acids before prematurely terminating (codon 146). The truncated peptide lacking the fourth ""Greek key"" probably leads to misfolding of the crystallin gene product and may act as a dominant negative. [MGI Ref ID J:2144]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Cryge^Elo related

Cartier M; Breitman ML; Tsui LC. 1992. A frameshift mutation in the gamma E-crystallin gene of the Elo mouse [published erratum appears in Nat Genet 1992 Dec;2(4):343] Nat Genet 2(1):42-5. [PubMed: 1303247]  [MGI Ref ID J:2144]

Graw J; Neuhauser-Klaus A; Klopp N; Selby PB; Loster J; Favor J. 2004. Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse. Invest Ophthalmol Vis Sci 45(4):1202-13. [PubMed: 15037589]  [MGI Ref ID J:90087]

Oda S; Watanabe K; Fujisawa H; Kameyama Y. 1980. Impaired development of lens fibers in genetic microphthalmia, eye lens obsolescence, Elo, of the mouse. Exp Eye Res 31(6):673-81. [PubMed: 7215463]  [MGI Ref ID J:6481]

Oda SI; Watanabe T; Kondo K. 1980. A new mutation, eye lens obsolescence, Elo, on Chromosome 1 in the mouse Jpn J Genet 55:71-5.  [MGI Ref ID J:15383]

Skow L; Donner M. 1986. Eye lens obsolescence Mouse News Lett 74:119.  [MGI Ref ID J:14998]

Watanabe K; Fujisawa H; Oda S; Kameyama Y. 1980. Organ culture and immunohistochemistry of the genetically malformed lens, in eye lens obsolescence, Elo, of the mouse. Exp Eye Res 31(6):683-9. [PubMed: 7011824]  [MGI Ref ID J:6482]

Yoshiki A; Hanazono M; Oda S; Wakasugi N; Sakakura T; Kusakabe M. 1991. Developmental analysis of the eye lens obsolescence (Elo) gene in the mouse: cell proliferation and Elo gene expression in the aggregation chimera. Development 113(4):1293-304. [PubMed: 1811943]  [MGI Ref ID J:1630]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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