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Phenotypes Associated with This Genotype
Genotype
MGI:3846575
Allelic
Composition
T(7;18)50H/+
Genetic
Background
involves: 101/H * C3H/HeH
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phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 79% of mice with proximal Chr7 paternal duplication survived birth; 89% of normal siblings survived birth
• maternal duplication of distal Chr7, 7E2 to the telomere, results in mid-gestation lethality
• mice with paternal duplication of distal Chr7, 7E2 to the telomere, die during early embryonic development

reproductive system
• both maternal or paternal duplication of Chr7 segments result from heterozygous matings

cellular
• 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
• 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

growth/size/body
• observerd in chimeras comprising cells with paternal duplication of distal Chr7, 7E2 to the telomere, and wild-type cells
• mice with paternal duplication of proximal Chr7 show slower growth from birth to weaning age

limbs/digits/tail
• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
• observed in mice with paternal duplication of proximal Chr7
• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
• observed in mice with paternal duplication of proximal Chr7
• mean length is 71 cm for mice with paternal duplication of proximal Chr7 compared to a mean length of 85 cm for normal siblings

skeleton
• mice with paternal duplication of proximal Chr 7 have thin and fail humerii
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
• observed in mice with paternal duplication of proximal Chr7
• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs
• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere
• observed in mice with paternal duplication of proximal Chr7
• found in mice with paternal duplication of proximal Chr7

Mouse Models of Human Disease
OMIM ID Ref(s)
Prader-Willi Syndrome; PWS 176270 J:3618


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory