Phenotypes associated with this allele

• Allele Symbol: Gnas^Oedsml
• Allele Name: oedematous-small
• Allele ID: MGI:2183318
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gnas^Oedsml/Gnas^Oedsml	involves: 101/H * C3H/HeH	MGI:3810398
ht2	Gnas^Oedsml/Gnas^+	involves: 101/H * C3H/HeH	MGI:2183332
ht3	Gnas^Oedsml/Gnas^+	involves: 101/H * C3H/HeH * M. m. castaneus	MGI:3576649
ht4	Gnas^Oedsml/Gnas^+	Not Specified	MGI:3051504
ht5	Gnas^Oedsml/Gnas^tm1Jop	involves: 129S/SvEv * C57BL/6	MGI:3051503
cx6	Gnas^Oedsml/Gnas^+ Gnasas1^tm1Jop/Gnasas1^+	involves: 101/H * 129S/SvEv * C3H/HeH	MGI:3622192

Genotype
MGI:3810398

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:65007 )

• homozygotes die early in development

Genotype
MGI:2183332

ht2

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

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

Genotype
MGI:3576649

ht3

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

mortality/aging

postnatal lethality, complete penetrance ( J:65007 )

• Background Sensitivity: increased survival was noted on a M. m. castaneus background in mice with a mutant allele inherited from the mother

• mutants die within a few days of birth

homeostasis/metabolism

hydrops fetalis ( J:65007 )

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

• adult survivors from a M. m. castaneus cross are not overtly edematous

Genotype
MGI:3051504

ht4

• Allelic Composition: Gnas^Oedsml/Gnas⁺
• Genetic Background: Not Specified

cardiovascular system

decreased heart weight ( J:91717 )

• microcardia is seen in mice with a maternally inherited allele

growth/size/body

decreased birth body size ( J:91717 )

• body length is significantly reduced in neonates in mice with a maternally inherited mutant allele

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:91717 )

• circulating parathyroid hormone levels are increased in mice with a maternally inherited mutant allele

decreased circulating calcium level ( J:91717 )

• circulating calcium levels are decreased in mice with a maternally inherited mutant allele

increased circulating phosphate level ( J:91717 )

• circulating phosphorus levels are increased in mice with a maternally inherited mutant allele

edema ( J:91717 )

• gross edema is seen at birth in mice with a maternally inherited mutant allele

Genotype
MGI:3051503

ht5

• Allelic Composition: Gnas^Oedsml/Gnas^tm1Jop
• Genetic Background: involves: 129S/SvEv * C57BL/6

cardiovascular system

abnormal heart size ( J:91717 )

• the heart weight to body length ratio is significantly reduced compared to wild-type littermates, however neither heart weight nor body length alone are significantly reduced

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:91717 )

N • unlike Gnas^Oedsml-mat heterozygotes, compound heterozygotes are viable and do not display hypocalcemia, hyperphosphatemia, elevated circulating parathyroid hormone levels, gross edema, or brown fat abnormalities

Genotype
MGI:3622192

cx6

• Allelic Composition: Gnas^Oedsml/Gnas⁺; Gnasas1^tm1Jop/Gnasas1⁺
• Genetic Background: involves: 101/H * 129S/SvEv * C3H/HeH

homeostasis/metabolism

edema ( J:106793 )

• when Nepas^tm1Jop is paternally inherited and Gnas^Oedsml-mat is maternally inherited the incidence of edema is reduced (6 of 32 develop edema) compared to mice heterozygous for Gnas^Oedsml-mat alone (20 of 20)