reproductive system
• chromosomal breakpoints in this reciprocal translocation results in 47% RIV, 47% CIV, and 6% CIII+I
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Allele Symbol Allele Name Allele ID |
T(7;18)50H reciprocal translocation, Chr 7 and 18, Harwell 50 MGI:3029990 |
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Summary |
4 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• chromosomal breakpoints in this reciprocal translocation results in 47% RIV, 47% CIV, and 6% CIII+I
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• 79% of mice with proximal Chr7 paternal duplication survived birth; 89% of normal siblings survived birth
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• maternal duplication of distal Chr7, 7E2 to the telomere, results in mid-gestation lethality
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• mice with paternal duplication of distal Chr7, 7E2 to the telomere, die during early embryonic development
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• both maternal or paternal duplication of Chr7 segments result from heterozygous matings
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• observerd in chimeras comprising cells with paternal duplication of distal Chr7, 7E2 to the telomere, and wild-type cells
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• mice with paternal duplication of proximal Chr7 show slower growth from birth to weaning age
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• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
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• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
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• observed in mice with paternal duplication of proximal Chr7
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• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
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• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
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• observed in mice with paternal duplication of proximal Chr7
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• found in mice with paternal duplication of proximal Chr7
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• some offspring produced by intercrossing heterozygotes inherit 2 maternal copies of proximal Chr7, breakpoint 7E2 to the centromere, containing imprinted genes
• some offspring produced by intercrossing heterozygotes inherit 2 maternal copies of distal Chr7, breakpoint 7E2 to the telomere, containing imprinted genes
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• 5.3% of offspring produced by intercrossing heterozygotes inherit 2 paternal copies of proximal Chr7, breakpoint 7E2 to the centromere, containing imprinted genes
• intercrossing heterozygotes also produces offspring that inherit 2 paternal copies of distal Chr7, breakpoint 7E2 to the telomere, containing imprinted genes
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• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
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• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
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• observed in mice with paternal duplication of proximal Chr7
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• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
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• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
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• observed in mice with paternal duplication of proximal Chr7
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• mean length is 71 cm for mice with paternal duplication of proximal Chr7 compared to a mean length of 85 cm for normal siblings
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Prader-Willi syndrome | DOID:11983 |
OMIM:176270 |
J:3618 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• Background Sensitivity: mean testis weights were significantly reduced compared to wild-type males in the presence of C57BL/6 compared to CBA/H alleles
• lowered weight is associated with decreased sperm count
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• body-weights are slightly reduced in translocation carriers compared to wild-type siblings
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• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are significantly lower than for wild-type males; substituting CBA/H for C57BL/6J in the background normalizes the sperm count
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• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
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• Background Sensitivity: mean testis weights were significantly reduced compared to wild-type males in the presence of C57BL/6 compared to CBA/H alleles
• lowered weight is associated with decreased sperm count
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• resolve to chromosomally unbalanced gametes and reduced fertility
• Background Sensitivity: decreased frequency of ring configurations are seen compared to mice inheriting strain CBA/H alleles
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• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are significantly lower than for wild-type males; substituting CBA/H for C57BL/6J in the background normalizes the sperm count
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• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
|
• mean testis weights were significantly reduced compared to wild-type males
• lowered weight is associated with decreased sperm count
|
• resolve to chromosomally unbalanced gametes and reduced fertility
• Background Sensitivity: decreased frequency of ring configurations are seen, compared to mice inheriting strain CBA/H alleles
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• lowered sperm count is not signficant enough to be the reason for decreased fertility
• lowered sperm count is associated with reduction in testis weight
• Background Sensitivity: mean sperm counts for heterozygous males are similar to wild-type males
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• body-weights are slightly reduced in translocation carriers compared to wild-type siblings
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• mean testis weights were significantly reduced compared to wild-type males
• lowered weight is associated with decreased sperm count
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• Background Sensitivity: frequency of sperm-head abnormalities is doubled compared to wild-type; difference was significant only in presence of CBA/H alleles
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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