Mouse Genome Informatics
ht
    T(7;18)50H/+
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 79% of mice with proximal Chr7 paternal duplication survived birth; 89% of normal siblings survived birth
• mice with paternal duplication of distal Chr7, 7E2 to the telomere, die during early embryonic development
• maternal duplication of distal Chr7, 7E2 to the telomere, results in mid-gestation lethality

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

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

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

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

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

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