Phenotypes Associated with This Genotype

Genotype
MGI:5497990

• Allelic Composition: T(7;18)50H/+
• Genetic Background: involves: 101/H * C3H/HeH

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:3618 )

• 79% of mice with proximal Chr7 paternal duplication survived birth; 89% of normal siblings survived birth

embryonic lethality during organogenesis, incomplete penetrance ( J:3618 )

• maternal duplication of distal Chr7, 7E2 to the telomere, results in mid-gestation lethality

embryonic lethality, complete penetrance ( J:3618 )

• mice with paternal duplication of distal Chr7, 7E2 to the telomere, die during early embryonic development

reproductive system

uniparental disomy ( J:3618 )

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

growth/size/body

increased growth rate ( J:3618 )

• observerd in chimeras comprising cells with paternal duplication of distal Chr7, 7E2 to the telomere, and wild-type cells

postnatal growth retardation ( J:3618 )

• mice with paternal duplication of proximal Chr7 show slower growth from birth to weaning age

skeleton

abnormal humerus morphology ( J:3618 )

• mice with paternal duplication of proximal Chr 7 have thin and fail humerii

decreased diameter of humerus ( J:3618 )

• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere

short humerus ( J:3618 )

• observed in mice with paternal duplication of proximal Chr7

abnormal femur morphology ( J:3618 )

• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs

decreased diameter of femur ( J:3618 )

• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere

short femur ( J:3618 )

• observed in mice with paternal duplication of proximal Chr7

abnormal pelvic girdle bone morphology ( J:3618 )

• found in mice with paternal duplication of proximal Chr7

cellular

uniparental disomy ( J:3618 )

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

maternal imprinting ( J:3618 )

• 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

paternal imprinting ( J:3618 )

• 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

abnormal humerus morphology ( J:3618 )

• mice with paternal duplication of proximal Chr 7 have thin and fail humerii

decreased diameter of humerus ( J:3618 )

• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere

short humerus ( J:3618 )

• observed in mice with paternal duplication of proximal Chr7

abnormal femur morphology ( J:3618 )

• mice with paternal duplication of proximal Chr7, 7E2 to the centromere, have thin and fail femurs

decreased diameter of femur ( J:3618 )

• found in mice with paternal duplication of proximal Chr7, 7E2 to the centromere

short femur ( J:3618 )

• observed in mice with paternal duplication of proximal Chr7

short tail ( J:3618 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:3618