All Phenotypes Gnasas1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Gnasas1⁺
wild type
MGI:2439589

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gnasas1^tm1.1Hju/Gnasas1⁺	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)	MGI:4459500
ht2	Gnasas1^tm1.1Jop/Gnasas1⁺	involves: 129S1/Sv * M. spretus	MGI:4950265
ht3	Gnasas1^tm1Jop/Gnasas1⁺	involves: 129S/SvEv	MGI:3622191
ht4	Gnasas1^tm2.1Jop/Gnasas1⁺	involves: 129S/SvEv * 129S1/Sv	MGI:4950261
ht5	Gnasas1^tm1.1Jop/Gnasas1⁺	involves: 129S/SvEv * 129S1/Sv	MGI:4950263
cx6	Gnas^Oedsml/Gnas⁺ Gnasas1^tm1Jop/Gnasas1⁺	involves: 101/H * 129S/SvEv * C3H/HeH	MGI:3622192

Allelic Composition	Gnasas1^tm1.1Hju/Gnasas1⁺
Genetic Background	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm1.1Hju mutation (0 available); any Gnasas1 mutation (6 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:160293 )

• when this allele is inherited maternally, mice exhibit do not survive beyond P5

growth/size/body

decreased birth weight ( J:160293 )

• when this allele is inherited maternally

abnormal body size ( J:160293 )

• when this allele is inherited maternally, mice exhibit narrow bodies unlike wild-type mice

postnatal growth retardation ( J:160293 )

• when this allele is inherited maternally

cellular

abnormal DNA methylation ( J:160293 )

• when this allele is inherited maternally, mice exhibit demethylation and altered expression of genes around the allele compared with wild-type mice

abnormal imprinting ( J:160293 )

• when this allele is inherited maternally, mice exhibit uniparental phenotypes and demethylation with altered expression of genes around the allele compared with wild-type mice

maternal imprinting ( J:160293 )

homeostasis/metabolism

skin edema ( J:160293 )

• when this allele is inherited maternally

behavior/neurological

hyperactivity ( J:160293 )

• when this allele is inherited maternally

integument

skin edema ( J:160293 )

• when this allele is inherited maternally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudohypoparathyroidism		DOID:4184		J:160293

Allelic Composition	Gnasas1^tm1.1Jop/Gnasas1⁺
Genetic Background	involves: 129S1/Sv * M. spretus

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm1.1Jop mutation (0 available); any Gnasas1 mutation (6 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	Gnasas1^tm1Jop/Gnasas1⁺
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm1Jop mutation (0 available); any Gnasas1 mutation (6 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:106793 )

• when this allele is paternally inherited heterozygotes die by P2

behavior/neurological

lethargy ( J:106793 )

• when this allele is paternally inherited heterozygotes become lethargic shortly after birth

abnormal suckling behavior ( J:106793 )

• when this allele is paternally inherited heterozygotes do not feed properly

growth/size/body

decreased body size ( J:106793 )

• when this allele is paternally inherited heterozygotes become thin shortly after birth

cellular

maternal imprinting ( J:106793 )

• when this allele is maternally inherited heterozygotes are viable and fertile

Allelic Composition	Gnasas1^tm2.1Jop/Gnasas1⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm2.1Jop mutation (0 available); any Gnasas1 mutation (6 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	Gnasas1^tm1.1Jop/Gnasas1⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnasas1^tm1.1Jop mutation (0 available); any Gnasas1 mutation (6 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^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 (0 available); any Gnasas1 mutation (6 available)
Gnas^Oedsml mutation (0 available); any Gnas mutation (53 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)

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