All Phenotypes Gnas<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gnas^tm2Kel/Gnas⁺	either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)	MGI:3583684
ht2	Gnas^tm1Gwa/Gnas⁺	either: (involves: 129S4/SvJae * 129/Sv) or (involves: 129S4/SvJae * C57BL/6J) or (involves: 129S4/SvJae * CD-1)	MGI:3655857
ht3	Gnas^Oedsml/Gnas⁺	involves: 101/H * C3H/HeH	MGI:2183332
ht4	Gnas^Oedsml/Gnas⁺	involves: 101/H * C3H/HeH * M. m. castaneus	MGI:3576649
ht5	Gnas^tm3Kel/Gnas⁺	involves: 129P2/OlaHsd * C57BL/6J * DS/2	MGI:3831083
ht6	Gnas/Nespas^tm1.1Jop/Gnas⁺	involves: 129S1/Sv * M. spretus	MGI:4950264
ht7	Gnas^tm1Kel/Gnas⁺	involves: 129S2/SvPas	MGI:5320914
ht8	Gnas^tm1Kel/Gnas⁺	involves: 129S2/SvPas * C57BL/6J	MGI:3050835
ht9	Gnas^tm1Kel/Gnas⁺	involves: 129S2/SvPas * C57BL/6J * CD-1	MGI:3050842
ht10	Gnas^tm1Lsw/Gnas⁺	involves: 129S4/SvJae	MGI:4352712
ht11	Gnas^tm1.2Plag/Gnas⁺	involves: 129S4/SvJae * BALB/cJ * C57BL/6 * CD-1 * SJL	MGI:5320913
ht12	Gnas^tm1.1Plag/Gnas⁺	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL	MGI:5320909
ht13	Gnas^tm1.1Plag/Gnas⁺	involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL	MGI:5320912
ht14	Gnas^tm1Gwa/Gnas⁺	involves: 129S4/SvJae * C57BL/6J	MGI:3655856
ht15	Gnas^tm1Lsw/Gnas⁺	involves: 129S4/SvJae * CD-1	MGI:4352709
ht16	Gnas^tm4Lsw/Gnas⁺	involves: 129S6/SvEvTac	MGI:5818292
ht17	Gnas^tm2.1Lsw/Gnas⁺	involves: 129S6/SvEvTac * Black Swiss	MGI:3575305
ht18	Gnas^tm4Lsw/Gnas⁺	involves: 129S6/SvEvTac * Black Swiss * CD-1	MGI:3583677
ht19	Gnas^tm3Jop/Gnas⁺	involves: 129S/SvEv	MGI:5317112
ht20	Gnas^tm2Jop/Gnas⁺	involves: 129S/SvEv	MGI:5317111
ht21	Gnas/Nespas^tm1.1Jop/Gnas⁺	involves: 129S/SvEv * 129S1/Sv	MGI:4950262
ht22	Gnas/Nespas^tm2.1Jop/Gnas⁺	involves: 129S/SvEv * 129S1/Sv	MGI:4950260
ht23	Gnas^tm1Gwa/Gnas⁺	involves: 129S/SvEv * 129S4/SvJae	MGI:5285183
ht24	Gnas^tm1Jop/Gnas⁺	involves: 129S/SvEv * C57BL/6	MGI:3051502
ht25	Gnas^Oedsml/Gnas⁺	Not Specified	MGI:3051504
cx26	Gnas^Oedsml/Gnas⁺ Gnasas1^tm1Jop/Gnasas1⁺	involves: 101/H * 129S/SvEv * C3H/HeH	MGI:3622192

Allelic Composition	Gnas^tm2Kel/Gnas⁺
Genetic Background	either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm2Kel mutation (4 available); any Gnas mutation (66 available)

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

behavior/neurological

abnormal response to new environment ( J:97634 )

• heterozygotes with a maternally inherited allele made more entries into a novel environment but spent less time in the novel environment

hyperactivity ( J:97634 )

• increased activity is seen in heterozygotes with a maternally inherited allele on the first day of testing; however both groups habituated over time

nervous system

nervous system phenotype ( J:97634 )

N	• whole tissue levels of norepinephrine, dopamine and 5-hydroxytryptamine are normal

cellular

paternal imprinting ( J:97634 )

• heterozygotes inheriting the allele from the mother display a phenotype while heterozygotes inheriting the allele from the father are similar to wild-type and are used as controls

Allelic Composition	Gnas^tm1Gwa/Gnas⁺
Genetic Background	either: (involves: 129S4/SvJae * 129/Sv) or (involves: 129S4/SvJae * C57BL/6J) or (involves: 129S4/SvJae * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Gwa mutation (0 available); any Gnas mutation (66 available)

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

behavior/neurological

decreased alcohol consumption ( J:70175 )

• mutants have a lower intake of ethanol than wild-type mice when given 24 hour access to feeding tubes containing water or water with 3% ethanol or when ethanol content is increased to 6, 10 and 20% every three days; genetic background shows no effect on phenotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^Oedsml mutation (2 available); any Gnas mutation (66 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^Oedsml mutation (2 available); any Gnas mutation (66 available)

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

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

Allelic Composition	Gnas^tm3Kel/Gnas⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * DS/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm3Kel mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:143477 )

• maternal transmission of the mutant allele leads to significant differences in the survival rate of pups that is dependent the how extensive the loss of methylation (LoM) is within the Gnas complex

• in pups where LoM is confined to the 1A maternal allele, only 30% of pups survive until weaning

• in pups where LoM is more extensive, all pups die by 7 days after birth

• pups with paternal transmission of the mutant allele have survival rates similar to wild-type

cellular

abnormal imprinting ( J:143477 )

• in pups that have maternal transmission of the mutant allele, there is an some loss of methylation with the maternal alleles that lie within the Gnas complex locus

• all pups that have maternal transmission of the mutant allele lack methylation of the control region for the maternal 1A allele

• 68% of pups with maternal transmission of the mutant allele lack methylation of the control region for the maternal Gnasx1 allele

• 24% of pups with maternal transmission of the mutant allele lack methylation of the first exon of the maternal Nespas allele

• loss of methylation of the Gnas locus within a given mouse was constant across different tissues (i.e. no signs of mosaic methylation within an individual)

• there is no abnormal imprinting within the Gnas locus in pups that have paternal transmission of the mutant allele

paternal imprinting ( J:143477 )

• no abnormal phenotype is observed when the mutant allele is paternally inherited

growth/size/body

abnormal body weight ( J:143477 )

• maternal transmission of the mutant allele leads to significant differences in the mean weight of neonatal pups that is dependent on how extensive the loss of methylation (LoM) is within the Gnas complex

• in pups where LoM is confined to the 1A maternal allele, pups are significantly heavier at birth than wild-type controls

• in pups where LoM is more extensive, pups are significantly lighter at birth than wild-type controls

• pups with paternal transmission of the mutant allele have normal birth weights

adipose tissue

abnormal fat pad morphology ( J:143477 )

• some neonatal pups that have received paternal transmission of the mutant allele have visibly larger fat pads

Allelic Composition	Gnas/Nespas^tm1.1Jop/Gnas⁺
Genetic Background	involves: 129S1/Sv * M. spretus

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas/Nespas^tm1.1Jop mutation (1 available); any Gnas mutation (66 available)

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

cellular

abnormal DNA methylation ( J:171195 )

• when this allele is inherited maternally, some mice exhibit loss of methylation of Nespas differentially methylated region (DMR) compared with wild-type mice

Allelic Composition	Gnas^tm1Kel/Gnas⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Kel mutation (0 available); any Gnas mutation (66 available)

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

homeostasis/metabolism

increased circulating ghrelin level ( J:184320 )

• when this allele is inherited paternally

Allelic Composition	Gnas^tm1Kel/Gnas⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Kel mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:91703 )

• Background Sensitivity: all heterozygotes die by P9 with most dying in the first 2 days after birth

• Background Sensitivity: in contrast 10% - 20% of heterozygotes survive on a mixed 129/Sv, C57BL/6J and CD1 background

cellular

abnormal imprinting ( J:91703 )

• abnormal imprinting occurs with mice receiving the maternal allele having a normal phenotype while mice receiving the paternal allele have a wide range of phenotype abnormalities

adipose tissue

decreased brown adipose tissue amount ( J:91703 )

• lipid vesicles are almost completely absent

decreased white adipose tissue amount ( J:91703 )

• lipid vesicles are almost completely absent

decreased interscapular fat pad weight ( J:91703 )

• the interscapular fat pad is decreased by 48 hours after birth

behavior/neurological

abnormal suckling behavior ( J:91703 )

• reduced suckling is seen resulting in a 50% reduction in the stomach weight to body weight ratio

weakness ( J:91703 )

• mutants are weaker than normal

decreased locomotor activity ( J:91703 )

• mutants are inactive

growth/size/body

slow postnatal weight gain ( J:91703 )

• weight gain is slow

homeostasis/metabolism

decreased circulating glucose level ( J:91703 )

• blood glucose levels are severely reduced

decreased circulating glucagon level ( J:91703 )

• glucagon levels are decreased despite the decreased glucose levels

decreased circulating insulin level ( J:91703 )

• blood insulin levels are severely reduced and often undetectable

Allelic Composition	Gnas^tm1Kel/Gnas⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Kel mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality ( J:91703 )

• Background Sensitivity: most heterozygotes receiving this mutant allele paternally die by P9, however in contrast to heterozygotes on a mixed 129 and C57BL/6 background around 10% - 20% survive past weaning

Allelic Composition	Gnas^tm1Lsw/Gnas⁺
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Lsw mutation (0 available); any Gnas mutation (66 available)

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

homeostasis/metabolism

decreased urine osmolality ( J:56867 )

• when the allele is inherited paternally, mice treated with a V2 receptor-selective vasopressin agonist exhibit reduced urine osmolarity compared to in similarly treated wild-type mice

renal/urinary system

decreased urine osmolality ( J:56867 )

• when the allele is inherited paternally, mice treated with a V2 receptor-selective vasopressin agonist exhibit reduced urine osmolarity compared to in similarly treated wild-type mice

Allelic Composition	Gnas^tm1.2Plag/Gnas⁺
Genetic Background	involves: 129S4/SvJae * BALB/cJ * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1.2Plag mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:184320 )

• when this allele is inherited paternally

Allelic Composition	Gnas^tm1.1Plag/Gnas⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1.1Plag mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:184320 )

• Background Sensitivity: when this allele is inherited paternally, fewer mice survive than mice on a background containing CD-1

Allelic Composition	Gnas^tm1.1Plag/Gnas⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1.1Plag mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:184320 )

• Background Sensitivity: when this allele is inherited paternally, more mice survive than mice on a background lacking CD-1

Allelic Composition	Gnas^tm1Gwa/Gnas⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Gwa mutation (0 available); any Gnas mutation (66 available)

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

behavior/neurological

impaired righting response ( J:70175 )

• mutants take twice as long to regain their righting reflex as wild-type in response to sedative effects of ethanol

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:70175 )

• adenylate cyclase activity stimulated by GTP or AlF in membranes of the nucleus accumbens is significantly reduced relative to wild-type membranes; AlF-stimulated adenylate cyclase activity is also reduced in the hypothalamus (-30%), cerebellum (-23%), hippocampus (-35%), frontal cortex (-22%) and brainstem (-21%)

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

mortality/aging

decreased survivor rate ( J:49340 )

• the few mice that survive to weaning are fertile with normal life spans

neonatal lethality, incomplete penetrance ( J:49340 )

• when the allele is inherited paternally, 77% of mice die within the first 24 hours after birth

postnatal lethality, incomplete penetrance ( J:49340 )

• when the allele is inherited maternally, 80% of mice die between 7 and 21 days of birth

growth/size/body

abnormal outer ear morphology ( J:49340 )

• when the allele is inherited maternally, ears are round and inset unlike in wild-type mice

decreased birth body size ( J:49340 )

• when the allele is inherited paternally, mice exhibit narrow bodies compared to wild-type mice

decreased birth weight ( J:49340 )

• when the allele is inherited paternally

increased birth body size ( J:49340 )

• when the allele is inherited maternally, mice have wide, square bodies compared with wild-type mice

increased birth weight ( J:49340 )

• when the allele is inherited maternally

decreased body mass index ( J:60971 )

• by day 60 when the allele is inherited paternally

increased body mass index ( J:60971 )

• by day 60 when the allele is inherited maternally

increased lean body mass ( J:49340 )

• when the allele is inherited paternally, mice are leaner than normal

abnormal body size ( J:60971 )

• within days of birth mice inheriting the allele maternally tend towards obese and mice inheriting the allele paternally are lean

decreased body weight ( J:60971 )

• at weaning, mice exhibit reduced body weight regardless of allele inheritance

• at 4 to 8 months, mice that inherit the allele paternally exhibit reduced body weight compared with wild-type mice

obese ( J:49340 )

• in early adulthood when the allele is inherited maternally

decreased body length ( J:60971 )

• regardless of allele inheritance, body length is 90% of wild-type

postnatal growth retardation ( J:49340 , J:60971 )

• in the few surviving mice regardless of allele inheritence (J:49340)

• regardless of allele inheritance (J:60971)

behavior/neurological

absent gastric milk in neonates ( J:49340 )

• when the allele is inherited paternally, 77% of mice do not suckle milk unlike wild-type mice

abnormal motor capabilities/coordination/movement ( J:49340 )

impaired righting response ( J:49340 )

• when the allele is inherited maternally, 80% of mice exhibit poor righting reflex between 7 and 21 days of birth unlike wild-type mice

tremors ( J:49340 )

• when the allele is inherited maternally, 80% of mice develop tremors between 7 and 21 days of birth unlike wild-type mice

ataxia ( J:49340 )

• when the allele is inherited maternally, 80% of mice develop ataxia between 7 and 21 days of birth unlike wild-type mice

impaired balance ( J:49340 )

• when the allele is inherited maternally, 80% of mice develop imbalance between 7 and 21 days of birth unlike wild-type mice

abnormal posture ( J:49340 )

• when the allele is inherited paternally, mice exhibit arched back unlike in wild-type mice

decreased locomotor activity ( J:60971 )

• when the allele is inherited maternally, mice exhibit reduced ambulatory activity compared with wild-type mice

increased locomotor activity ( J:60971 )

• when the allele is inherited paternally, mice exhibit increased total and ambulatory activity compared with wild-type mice

no spontaneous movement ( J:49340 )

• when the allele is inherited paternally, 77% of mice become inactive unlike wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:60971 )

N	• mice exhibit normal serum thyroid stimulating hormone, T3, and T4 levels

abnormal blood homeostasis ( J:106729 )

increased circulating parathyroid hormone level ( J:49340 )

• when the allele is inherited maternally

decreased circulating cholesterol level ( J:60971 )

• when the allele is inherited paternally

decreased circulating triglyceride level ( J:60971 )

• when the allele is inherited paternally

decreased circulating calcium level ( J:49340 )

• when the allele is inherited maternally

increased urine dopamine level ( J:60971 )

• regardless of allele inheritance, DOPA levels are elevated in the urine compared to in wild-type mice

decreased urine noradrenaline level ( J:60971 )

• when the allele is inherited maternally, urine norepinepherine levels are 20% less than in wild-type mice

increased urine noradrenaline level ( J:60971 )

• when the allele is inherited paternally, urine norepinepherine levels are 20% more than in wild-type mice

skin edema ( J:49340 )

• when the allele is inherited maternally

abnormal gas homeostasis ( J:60971 )

decreased oxygen consumption ( J:60971 )

• when the allele is inherited maternally, resting metabolic rate at 21 degrees Celsius in older mice, as measured by oxygen consumption, is 28% less than in wild-type mice

• when the allele is inherited maternally, resting metabolic rate at 21 degrees Celsius in older mice, as measured by oxygen consumption, is less than in wild-type mice

• however, oxygen consumption at 30 degrees Celsius is normal

increased oxygen consumption ( J:60971 )

• when the allele is inherited paternally, resting metabolic rate at 21 degrees Celsius in older mice, as measured by oxygen consumption, is 23% greater than in wild-type mice

• when the allele is inherited paternally, resting metabolic rate at 30 degrees Celsius, as measured by oxygen consumption, is increased compared to in similarly treated wild-type mice

abnormal glucose homeostasis ( J:106729 )

decreased circulating glucose level ( J:106729 )

• in fasting mice inheriting the allele maternally

decreased circulating insulin level ( J:106729 )

• in fasting mice regardless of allele inheritance

improved glucose tolerance ( J:106729 )

• regardless of allele inheritance, overall the glucose curve is decreased although the return towards the base-line glucose levels is more pronounced in mice that inherit the allele paternally

increased insulin sensitivity ( J:106729 )

• regardless of allele inheritance, the hypoglycemic response to insulin injection is greater than in wild-type mice

insensitivity to parathyroid hormone ( J:49340 )

• when the allele is inherited maternally

cellular

increased muscle cell glucose uptake ( J:106729 )

• regardless of allele inheritance, muscular glucose uptake in the presence of insulin is greater (55% and 48% when the allele is inherited paternally or maternally, respectively) than in similarly treated wild-type mice

• however, basal glucose uptake in the muscle is normal

genetic imprinting ( J:49340 )

• imprinting of the allele varies in different organs with imprinting in the adipose tissue, parental imprinting in the renal cortex, and no imprinting in the renal inner medulla

hearing/vestibular/ear

abnormal outer ear morphology ( J:49340 )

• when the allele is inherited maternally, ears are round and inset unlike in wild-type mice

immune system

thymus cortex atrophy ( J:49340 )

• when the allele is inherited maternally, thymic cortical atrophy is observed unlike in wild-type mice

nervous system

abnormal cerebellar cortex morphology ( J:49340 )

• when the allele is inherited maternally, development of the cerebellar cortex is delayed with persistence of superficial granular cells unlike in wild-type mice

renal/urinary system

increased urine dopamine level ( J:60971 )

• regardless of allele inheritance, DOPA levels are elevated in the urine compared to in wild-type mice

decreased urine noradrenaline level ( J:60971 )

• when the allele is inherited maternally, urine norepinepherine levels are 20% less than in wild-type mice

increased urine noradrenaline level ( J:60971 )

• when the allele is inherited paternally, urine norepinepherine levels are 20% more than in wild-type mice

delayed kidney development ( J:49340 )

• when the allele is inherited maternally, mice exhibit immature kidneys unlike in wild-type mice

craniofacial

abnormal outer ear morphology ( J:49340 )

• when the allele is inherited maternally, ears are round and inset unlike in wild-type mice

hematopoietic system

thymus cortex atrophy ( J:49340 )

• when the allele is inherited maternally, thymic cortical atrophy is observed unlike in wild-type mice

muscle

increased muscle cell glucose uptake ( J:106729 )

• however, basal glucose uptake in the muscle is normal

adipose tissue

decreased white adipose tissue amount ( J:60971 )

• when the allele is inherited paternally, white adipose tissue lipid per cell is decreased compared to in wild-type mice

increased white adipose tissue amount ( J:60971 )

• when the allele is inherited paternally, white adipose tissue lipid per cell is increased compared to in wild-type mice

abnormal brown adipose tissue morphology ( J:60971 )

• when the allele is inherited paternally, brown adipose tissue pads are more brown than in wild-type mice 2 days after birth

• when the allele is inherited maternally, brown adipose tissue pads are lighter than in wild-type mice 2 days after birth

decreased brown adipose tissue amount ( J:60971 )

• when the allele is inherited paternally, brown adipose tissue pads are smaller than in wild-type mice 2 days after birth

increased brown adipose tissue amount ( J:60971 )

• when the allele is inherited maternally, brown adipose tissue pads are larger than in wild-type mice 2 days after birth

increased brown fat cell lipid droplet size ( J:60971 )

• when the allele is inherited maternally

decreased epididymal fat pad weight ( J:60971 )

• when the allele is inherited paternally, epididymal white adipose tissue pad weight is decreased compared to in wild-type mice

decreased interscapular fat pad weight ( J:60971 )

• when the allele is inherited paternally, interscapular brown adipose tissue pad weight is decreased compared to in wild-type mice

increased interscapular fat pad weight ( J:60971 )

• when the allele is inherited maternally, interscapular brown adipose tissue pad weight is increased compared to in wild-type mice

integument

abnormal skin morphology ( J:49340 )

• when the allele is inherited maternally, surviving mice exhibit convex skin folds on the dorsal neck unlike in wild-type mice

• when the allele is inherited paternally, surviving mice exhibit concave skin folds on the dorsal neck unlike in wild-type mice

skin edema ( J:49340 )

• when the allele is inherited maternally

endocrine/exocrine glands

thymus cortex atrophy ( J:49340 )

• when the allele is inherited maternally, thymic cortical atrophy is observed unlike in wild-type mice

Allelic Composition	Gnas^tm4Lsw/Gnas⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm4Lsw mutation (0 available); any Gnas mutation (66 available)

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

homeostasis/metabolism

abnormal blood homeostasis ( J:233851 )

• mice with a maternally inherited allele exhibit higher levels of serum FGF23

renal/urinary system

abnormal kidney morphology ( J:233851 )

• mice with a maternally inherited allele exhibit higher renal Cyp24a1 mRNA but not Cyp27b1 mRNA

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudohypoparathyroidism type 1A		DOID:0080053	OMIM:103580	J:233851

Allelic Composition	Gnas^tm2.1Lsw/Gnas⁺
Genetic Background	involves: 129S6/SvEvTac * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm2.1Lsw mutation (0 available); any Gnas mutation (66 available)

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

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit lower serum parathyroid hormone levels

decreased circulating phosphate level ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit lower serum phosphorus levels

abnormal response/metabolism to endogenous compounds ( J:97229 )

• mice heterozygous for the paternally inherited allele exhibit increased parathyroid hormone sensitivity

cellular

maternal imprinting ( J:97229 )

• mice heterozygous for the maternally inherited allele exhibit no defects while mice heterozygous for the paternally inherited allele exhibit increased sensitivity to parathyroid hormone, lower serum parathyroid hormone levels, lower serum phosphorus, and increased G_salpha expression in tissues such as proximal tubules where it is normally imprinted

Allelic Composition	Gnas^tm4Lsw/Gnas⁺
Genetic Background	involves: 129S6/SvEvTac * Black Swiss * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm4Lsw mutation (0 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:99237 )

• when the allele is maternally inherited, about 50% of heterozygotes die before 3 weeks of age, mostly in the first 3 days after birth

homeostasis/metabolism

increased circulating leptin level ( J:99237 )

• when the allele is maternally inherited, serum leptin levels are 3-fold and more than 2-fold higher compared to wild-type and heterozygotes with a paternally inherited allele, respectively

• however, when the allele is paternally inherited, serum leptin levels are still increased compared to wild-type

increased circulating triglyceride level ( J:99237 )

• serum triglyceride levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele

edema ( J:99237 )

• when the allele is maternally inherited, subcutaneous edema is present at birth but resolves by 1-2 days of age

decreased oxygen consumption ( J:99237 )

• when the allele is maternally inherited but not when it is paternally inherited, resting metabolism is significantly lower at 23 and 30 degrees C; however, serum TSH and free thyroxine levels are normal suggesting that thyroid function is not impaired

abnormal glucose homeostasis ( J:99237 )

increased circulating glucose level ( J:99237 )

• serum glucose levels are increased in heterozygotes with a maternally inherited allele compared to those with a paternally inherited allele

increased circulating insulin level ( J:99237 )

• when the allele is paternally inherited, serum insulin but not serum glucose levels are elevated compared to wild-type mice

• serum insulin levels are increased in heterozygotes with a maternally inherited allele compared to levels in heterozygotes with a paternally inherited allele

impaired glucose tolerance ( J:99237 )

• glucose tolerance is impaired in random-fed mice when the allele is maternally or paternally inherited

insulin resistance ( J:99237 )

• insulin resistance is seen when the allele is maternally or paternally inherited, although the insulin resistance is more severe when the allele is maternally inherited

adipose tissue

abnormal adipose tissue morphology ( J:99237 )

• when the allele is maternally inherited, increased lipid accumulation is seen in the white and brown fat

increased brown adipose tissue amount ( J:99237 )

• when the allele is paternally inherited, total body weight is normal but the brown fat weight is increased

increased white adipose tissue amount ( J:99237 )

• when the allele is paternally inherited, total body weight is normal but the white fat pad weight is increased

increased total body fat amount ( J:99237 )

• when the allele is maternally inherited, fat mass is increased about 2-fold

increased interscapular fat pad weight ( J:99237 )

• when the allele is paternally inherited, greater lipid accumulation is seen in both the brown and white fat in the interscapular fat pad

growth/size/body

obese ( J:99237 )

• when the allele is maternally inherited, body weight is increased by about 20%; however, when the allele is paternally inherited, body weight is not significantly different from wild-type

cellular

paternal imprinting ( J:99237 )

• heterozygotes inheriting the allele from the mother display a more severe phenotype

Allelic Composition	Gnas^tm3Jop/Gnas⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm3Jop mutation (2 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:182868 )

• 93% survival past weaning

growth/size/body

decreased birth weight ( J:182868 )

• 95% of control weight when paternally inherited

decreased lean body mass ( J:182868 )

• reduced lean body mass at 12 weeks when paternally inherited but not significant

slow postnatal weight gain ( J:182868 )

• weight is 83% of normal controls at 2 weeks when paternally inherited

• weight is 96% of normal controls at 7-12 weeks (near normal)

adipose tissue

decreased total body fat amount ( J:182868 )

• reduced total body fat at 12 weeks of age when paternally inherited but not significant

behavior/neurological

behavior/neurological phenotype ( J:182868 )

N	• suckling behavior normal

abnormal eating behavior ( J:182868 )

• eat less when paternally inherited

Allelic Composition	Gnas^tm2Jop/Gnas⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm2Jop mutation (1 available); any Gnas mutation (66 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:182868 )

• 85% survival past weaning

growth/size/body

decreased birth weight ( J:182868 )

• 92% of control weight when paternally inherited

decreased lean body mass ( J:182868 )

• reduced lean body mass at 12 weeks when paternally inherited

• percentage of lean mass increased due to decrease in total fat

slow postnatal weight gain ( J:182868 )

• weight is 56% of normal controls at 2 weeks when paternally inherited

• weight is 75% of normal controls at 7-12 weeks

decreased body length ( J:182868 )

• at 12 weeks of age when paternally inherited

skeleton

short femur ( J:182868 )

• at 12 weeks of age when paternally inherited

decreased bone mineral density ( J:182868 )

• when paternally inherited

adipose tissue

decreased total body fat amount ( J:182868 )

• reduced total body fat at 12 weeks of age when paternally inherited

decreased percent body fat/body weight ( J:182868 )

• at 12 weeks of age when paternally inherited

behavior/neurological

behavior/neurological phenotype ( J:182868 )

N	• suckling behavior normal

increased food intake ( J:182868 )

• food intake increases when paternally inherited

homeostasis/metabolism

decreased circulating leptin level ( J:182868 )

• reduced serum leptin levels and leptin mRNA levels in both white and brown adipose tissue

abnormal gas homeostasis ( J:182868 )

increased carbon dioxide production ( J:182868 )

• when paternally inherited

increased oxygen consumption ( J:182868 )

• when paternally inherited

increased basal metabolism ( J:182868 )

• when paternally inherited

limbs/digits/tail

short femur ( J:182868 )

• at 12 weeks of age when paternally inherited

Allelic Composition	Gnas/Nespas^tm1.1Jop/Gnas⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas/Nespas^tm1.1Jop mutation (1 available); any Gnas mutation (66 available)

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

cellular

abnormal DNA methylation ( J:171195 )

• when this allele is inherited paternally, mice exhibit hypomethylation of the Nesp (Gnas) somatic differentially methylated region (DMR) compared with wild-type mice

• when this allele is inherited maternally, some mice exhibit loss of methylation of Nespas differentially methylated region (DMR) compared with wild-type mice

Allelic Composition	Gnas/Nespas^tm2.1Jop/Gnas⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas/Nespas^tm2.1Jop mutation (1 available); any Gnas mutation (66 available)

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

cellular

abnormal DNA methylation ( J:171195 )

• when this allele is inherited paternally, mice exhibit hypomethylation of the Nesp (Gnas) somatic differentially methylated region (DMR) compared with wild-type mice

Allelic Composition	Gnas^tm1Gwa/Gnas⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Gwa mutation (0 available); any Gnas mutation (66 available)

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

Subcutaneous ossifications in Gnas^tm1Gwa/Gnas⁺ mice

growth/size/body

obese ( J:174525 )

integument

abnormal hypodermis morphology ( J:174525 )

• mutants, regardless of whether the allele is maternally or paternally inherited, develop extensive and progressive subcutaneous ossifications

• females exhibit fewer ossifications at all times examined than males

skin lesions ( J:174525 )

• mutants, regardless of whether the allele is maternally or paternally inherited, develop extensive and progressive subcutaneous ossifications, with rare lesions in the dermis and subcutis at 3 months but very common at 12 months

• 12 month old mutants exhibit erythemateous and mildly erosive footpad lesions

• occasionally mice exhibit nodular subcutaneous ear lesions, always near the site of ear tags that are not seen in wild-type mice, indicating that areas of pressure and trauma develop ossifications

• at 12 months of age, lesions are more severe in males than females for both maternally and paternally inherited alleles

skeleton

ectopic bone ( J:174525 )

• heterotopic bone formation is seen in the skin and is often associated with a dense eosinophilic osteoid-like matrix in the dermis and perifollicular areas

• subcutaneous ossifications are mineralized and express osteoblast markers and appear to originate near the hair follicle

• males have more severe and widespread heterotopic bone in the subcutaneous tissue than female mice

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
pseudohypoparathyroidism type 1A	DOID:0080053	OMIM:103580	J:174525
pseudopseudohypoparathyroidism	DOID:4183	OMIM:612463	J:174525

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm1Jop mutation (2 available); any Gnas mutation (66 available)

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

normal phenotype

no abnormal phenotype detected ( J:91717 )

• mice carrying the allele, regardless if its inherited maternally or paternally, are viable, healthy, and fertile

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^Oedsml mutation (2 available); any Gnas mutation (66 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm1Jop mutation (2 available); any Gnasas1 mutation (8 available)
Gnas^Oedsml mutation (2 available); any Gnas mutation (66 available)

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

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/30/2025 MGI 6.24