Lop12, a Mutation in Mouse Crygd Causing Lens Opacity Similar to Human Coppock Cataract

Smith, Richard; Hawes, Norman L.; Chang, Bo; Roderick, Thomas H.; Akeson, Ellen C.; Heckenlively, John R.; Gong, Xiaohua; Wang, Xin; Davisson, Muriel T.

doi:10.1006/geno.1999.6054

Cited by 51 publications

(19 citation statements)

References 31 publications

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“…All mice had bilateral cataracts, but variable opacity was observed. The cataracts were fetal nuclear in location, consistent with cataracts seen in other mice strains with crystalline gene mutations (29,30). In most cases, the fetal nucleus of the lens had a dense opacity, and in some mice the opacities extended into the cortex.…”

Section: Transfer Of the Cap R Mutation Into Es Cellssupporting

confidence: 60%

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice

Sligh

Levy

Waymire

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

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123

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We report a method for introducing mtDNA mutations into the mouse female germ line by means of embryonic stem (ES) cell cybrids. Mitochondria were recovered from the brain of a NZB mouse by fusion of synaptosomes to a mtDNA-deficient (°) cell line. These cybrids were enucleated and the cytoplasts were electrofused to rhodamine-6G (R-6G)-treated female ES cells. The resulting ES cell cybrids permitted transmission of the NZB mtDNAs through the mouse maternal lineage for three generations. Similarly, mtDNAs from a partially respiratory-deficient chloramphenicol-resistant (CAP R ) cell line also were introduced into female chimeric mice and were transmitted to the progeny. CAP R chimeric mice developed a variety of ocular abnormalities, including congenital cataracts, decreased retinal function, and hamaratomas of the optic nerve. The germ-line transmission of the CAP R mutation resulted in animals with growth retardation, myopathy, dilated cardiomyopathy, and perinatal or in utero lethality. Skeletal and heart muscle mitochondria of the CAP R mice were enlarged and atypical with inclusions. This mouse ES cell-cybrid approach now provides the means to generate a wide variety of mouse models of mitochondrial disease.

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Section: Transfer Of the Cap R Mutation Into Es Cellssupporting

confidence: 60%

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice

Sligh

Levy

Waymire

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

123

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“…Among the characterized mouse mutations, the g-crystallins encoding genes (Cryg) are most sensitive with respect to mutation recurrence. Mutations in the Cryg genes change the structural features of the g-crystallins and are the most frequent causes for hereditary, congenital cataract in the mouse providing excellent models for human diseases (Cartier, Breitman and Tsui, 1992;Klopp et al, 1998;Smith, Hawes and Chang, 2000;Graw et al, 2001a;Klopp, Lo Èster and Graw, 2001;Sinha et al, 2001). Similarly, numerous mutations in man have been reported (He Âon et al, 1999;Stephan, Gillanders and van der Veen, 1999;Kmoch et al, 2000;Ren, Li and Shastry, 2000).…”

Section: Introductionmentioning

confidence: 90%

Characterization of a Mutation in the Lens-specific MP70 Encoding Gene of the Mouse Leading to a Dominant Cataract

Graw

Löster

Soewarto

et al. 2001

Experimental Eye Research

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“…It might be somehow dependant on the sequence, because the wild-type sequence CCACCCCAA changes to CCACACCAA. The second point of interest is that one of the dominant human CRYGD mutations (W156X) is identical to the dominant mouse Lop12 mutation (Smith et al, 2000). In this case, 18 amino acids are missing at the C-terminus and lead to a dominant phenotype (in contrast to the 16 amino acids that are missing in the γS-crystallin, which lead to a recessive phenotype).…”

Section: The γ γ γ γ γ-Crystallinsmentioning

confidence: 99%

Congenital hereditary cataracts

Graw¹

2004

Int. J. Dev. Biol.

126

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Congenital cataracts are rare and occur in developed countries with a frequency of 30 cases among 100,000 births with a further 10 cases being diagnosed during childhood. They reflect mainly genetically caused developmental alterations in the lens and surrounding ocular tissues. Even if modern Human Genetics has made large steps forward in the characterization of human hereditary disorders, the underlying developmental processes can only be investigated in model organisms. The mouse is such a good model because of its similarity (as a mammal) and its genetic characterization. This review brings together our genetic and developmental knowledge of congenital, human cataracts with the corresponding mouse models. First, early events will be influenced by genes coding for transcription factors like Pax6, Pitx3, Maf or Sox. If the lens is maturing, mutations affecting the lens membranes (aquaporins/Mip, Lim-2 or connexins) or the structural proteins of the cytosol of the lens fiber cells (the crystallins) become more important. From a genetic point of view it becomes obvious that cataract-causing mutations are not distributed randomly. The discovery of a broad variety of genes important for eye and lens development made much progress in the recent years. Nevertheless, there still remains a long list of mutations to be characterized and functionally investigated both in mouse and man indicating a broad genetic heterogeneity in that which clinicians simply refer to as a "cataract".

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Lop12, a Mutation in Mouse Crygd Causing Lens Opacity Similar to Human Coppock Cataract

Cited by 51 publications

References 31 publications

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice

Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice

Characterization of a Mutation in the Lens-specific MP70 Encoding Gene of the Mouse Leading to a Dominant Cataract

Congenital hereditary cataracts

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