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old_display.json
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old_display.json
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[
{
"Gene Name": "Ccna1 ",
"Alleles": "",
"rsID": "rs200577481",
"AA Change": "E253G",
"Allele Freq.": "0.1238 (ExAC), GNomad, Topmed= 0.0002",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Infertile (but not real SNP?)",
"Other Notes": "NOT IN GNOMAD. SNP from Schimenti list, Now GNOMAD updated the MAF for this allele, TopMed and Gnomad sows MAF as 0.0002, exAc Still shows it as 0.12",
"Researcher": "PS\r"
},
{
"Gene Name": "Cdk2",
"Alleles": "",
"rsID": "rs3087335",
"AA Change": "Y15S",
"Allele Freq.": 0.006,
"Microinjection Results": "",
"Mouse Phenotype / Status": "Infertile",
"Other Notes": "NOT IN GNOMAD. SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Spo11",
"Alleles": "C>A",
"rsID": "rs185545661",
"AA Change": "P268T",
"Allele Freq.": "0.04% Latino",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Subfertile; fewer sperm. Females have less primordial follicles",
"Other Notes": "SNP from Schimenti list",
"Researcher": "TNT\r"
},
{
"Gene Name": "Sept12",
"Alleles": "C>T",
"rsID": "rs138628476",
"AA Change": "G169E",
"Allele Freq.": "0.2% African",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Subfertile; abnormal sperm motility. Females are normal",
"Other Notes": "Collab w/ Yu Lab",
"Researcher": "TNT\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "A>G",
"rsID": "rs35001569",
"AA Change": "K618E",
"Allele Freq.": "0.35%",
"Microinjection Results": "3 HR/NHEJ founders",
"Mouse Phenotype / Status": "Normal male histology, 1 male tested for fertility could not produce any litter. reduced litter count in females (5 vs 8:KT vs WT",
"Other Notes": "",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "G>A",
"rsID": "rs35831931",
"AA Change": "V716M",
"Allele Freq.": "0.1% EURO",
"Microinjection Results": "4 HR edited",
"Mouse Phenotype / Status": "Premature ovarian follicle or aneuploidy, Fertility decreases with age in females, Looses fertility by 6 mth, Males appear normal",
"Other Notes": "",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "A>C",
"rsID": "rs63750449",
"AA Change": "K618T",
"Allele Freq.": "0.30%",
"Microinjection Results": "3/23 HR edited",
"Mouse Phenotype / Status": "May be aneuloidy in females, Males appear normal except partially abnormal histology, F test in progress NOT enough Ns",
"Other Notes": "",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "A>G",
"rsID": "rs63750650",
"AA Change": "E268G",
"Allele Freq.": "0.02% Euro",
"Microinjection Results": "4 Homozygous, 4 clean hets, 3 mosaics with EG alleles",
"Mouse Phenotype / Status": "May be aneuloidy in females, Males appear normal except partially abnormal histology, F test in progress",
"Other Notes": "",
"Researcher": "PS\r"
},
{
"Gene Name": "Mnd1",
"Alleles": "A>T",
"rsID": "rs140107488",
"AA Change": "K85M",
"Allele Freq.": "0.02% East Asian",
"Microinjection Results": "3 heterozygous founders",
"Mouse Phenotype / Status": "Normal litter sizes but skewed to males (w/ mutant fathers). More apoptosis, some meiotic defects (e.g. retained RAD51, less MLH1)",
"Other Notes": "SNP from Schimenti list",
"Researcher": "TNT\r"
},
{
"Gene Name": "Rabl2",
"Alleles": "C>T",
"rsID": "rs147189052",
"AA Change": "L119F",
"Allele Freq.": "0.70%",
"Microinjection Results": "4 Homozygous, 3 mosaics with LF and NHEJ alleles",
"Mouse Phenotype / Status": "Male specific infertility, Females so far appears normal",
"Other Notes": "Collab w/ Yu Lab",
"Researcher": "PS\r"
},
{
"Gene Name": "Rabl2",
"Alleles": "G>T",
"rsID": "rs200121688",
"AA Change": "V158F",
"Allele Freq.": "0.02%",
"Microinjection Results": "6 mosaics with VF and NHEJ alleles",
"Mouse Phenotype / Status": "Males specific Infertility, Females NOT tested yet",
"Other Notes": "Collab w/ Yu Lab",
"Researcher": "PS\r"
},
{
"Gene Name": "Dmc1",
"Alleles": "",
"rsID": "rs189722264",
"AA Change": "G50C",
"Allele Freq.": "",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "NOT IN GNOMAD. SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Dmc1",
"Alleles": "T>C",
"rsID": "rs2227914",
"AA Change": "M200V",
"Allele Freq.": ".049% Latino",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile; males have normal testes/sperm count and females have normal PF counts. Will look at MLH1 in spermatocyte spreads",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Exo1",
"Alleles": "C>A",
"rsID": "rs4149964",
"AA Change": "S465Y",
"Allele Freq.": "",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Fkbp6",
"Alleles": "C>T",
"rsID": "rs3750075 ",
"AA Change": "F67L",
"Allele Freq.": "",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "T>A",
"rsID": "rs63750447",
"AA Change": "V384D",
"Allele Freq.": "",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh1",
"Alleles": "G>A",
"rsID": "rs35831931",
"AA Change": "V716M",
"Allele Freq.": "0.1% EURO",
"Microinjection Results": "4 HR edited",
"Mouse Phenotype / Status": "Male fertile, Female undergoing F test",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Mlh3",
"Alleles": "G>C",
"rsID": "rs28756978",
"AA Change": "R93G",
"Allele Freq.": "0.001% East Asian",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list/Collab with Alani Lab",
"Researcher": "TNT\r"
},
{
"Gene Name": "Msh4",
"Alleles": "C>T",
"rsID": "rs141042002",
"AA Change": "T410M",
"Allele Freq.": "",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "Three alleles under this ID in GNOMAD. SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Sept12",
"Alleles": "C>T",
"rsID": "rs144420035",
"AA Change": "V162M",
"Allele Freq.": "0.05% Euro",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile (normal swimming patterns; perhaps slower?)",
"Other Notes": "Collab w/ Yu Lab",
"Researcher": "TNT\r"
},
{
"Gene Name": "Smc1b",
"Alleles": "G>C",
"rsID": "rs61735519",
"AA Change": "F1055L",
"Allele Freq.": "5%",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
},
{
"Gene Name": "Tex15",
"Alleles": "G>A",
"rsID": "rs147871035",
"AA Change": "T2181L",
"Allele Freq.": ".012 S. Asian",
"Microinjection Results": "",
"Mouse Phenotype / Status": "Fertile",
"Other Notes": "SNP from Schimenti list",
"Researcher": "PS\r"
}
]