Phenotypes Associated with This Genotype

Genotype
MGI:2183332

• Allelic Composition: Gnas^Oedsml/Gnas⁺
• Genetic Background: involves: 101/H * C3H/HeH

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

mortality/aging

postnatal lethality, complete penetrance ( J:65007 )

• mutants recieving a maternal allele die within a few days of birth

• Background Sensitivity: increased survival was noted on a M. m. castaneus background

• substantial postnatal lethality occurs in mice inheriting a paternal allele around 10-14 days of age

prenatal lethality, incomplete penetrance ( J:65007 )

• in mice receiving a maternal mutant allele, the amount of affected young were only half of the expected ratio and an elevated level of resorption sites (9.9%) and dying fetuses (15.3%) are seen at 17.5 - 19.5 days gestation

cellular

abnormal imprinting ( J:65007 )

• abnormal imprinting occurs with mice receiving the maternal allele exhibiting oedema and mice receiving the paternal allele being smaller in size

homeostasis/metabolism

hydrops fetalis ( J:65007 )

• gross edema was visible at birth in mice receiving a maternal mutant allele, with a peak at 16 days gestation and declines just before and after birth

growth/size/body

decreased body weight ( J:65007 )

• a decline in weight ratios is seen after birth in mice that have received a maternally inherited allele, with minimum values reached at 2 - 3 weeks of age

postnatal growth retardation ( J:65007 )

• growth retardation in mice inheriting a paternal mutant allele is seen 5-7 days after birth, and a weight ratio minimum reached at 10-14 days after birth

immune system

abnormal inflammatory response ( J:65007 )

• mice that survived for several days beyond birth and had maternally inherted the mutant allele, showed inflammatory reactions in the larynx and pharynx

cardiovascular system

small heart ( J:65007 )

• in mice receiving a maternal mutant allele, the heart is about half the size of a normal heart at E16 to P10; however, two surviving adults had normal hearts

adipose tissue

increased brown adipose tissue amount ( J:65007 )

• brown fat accumulation are seen in the scapular region on the back and around the throat in mice receiving a maternal mutant allele

respiratory system

respiratory distress ( J:65007 )

• in mice surviving more than a few days and carrying a maternally inherited mutant allele, had breathing difficulties and infiltration of red blood cells into the lungs

integument

abnormal coat appearance ( J:65007 )

• mice that survived beyond 2 weeks and have received the mutant alleles from their mothers were noted to have sparse wiry coats that became dense and rough in adults