Taxon:

Mouse

Gene:

"UPD"

Chromosome:

12

Location:

Description:

Maternal UPD for chromosome 12 causes perinatal death in association with growth retardation, skeletal muscle maturation defects and abnormal development of middle ear ossicles. Embryos with paternal UPD die late in gestation with placentomegaly, skeletal muscle maturation defects, costal cartilage defects and hypo-ossification of mesoderm-derived bones (Georgiades P et al, 2000; Georgiades P et al, 2001). Early embryonic lethality occurs when both distal alleles are inherited paternally (Cattanach BM, in Genomic Imprinting, OUP, 1997, pp 118-145).

Category:

Disomy (UPD)

Record:

100

Last Modified 4/28/2010

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