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Gene Gnas

Gene Symbol

MGI ID

MGI:95777

IMPC Status

Assigned

Sequence Variants

SNV Name Chromosome Position Reference Variant Functional Class Provean Amino Acid Reference Amino Acid Variant Source Contact
chr2.174341711.Gnas 2 174341711 T A Splice Disrupted splicing Contact
chr2.174345738.Gnas 2 174345738 A G Non-synonymous D->G Contact
chr2.174297974.Gnas 2 174297974 C T Non-synonymous A->V Contact
chr2.174299663.Gnas 2 174299663 C T Non-synonymous S->F Contact
chr2.174303716.Gnas 2 174303716 A G intron_variant . . . Ageing Contact
chr2.174304496.Gnas 2 174304496 C T intron_variant tolerant . . Ageing Contact
chr2.174304498.Gnas 2 174304498 C A intron_variant tolerant . . Ageing Contact
chr2.174304526.Gnas 2 174304526 C A intron_variant tolerant . . Ageing Contact
chr2.174304877.Gnas 2 174304877 A C intron_variant tolerant . . Ageing Contact
chr2.174324881.Gnas 2 174324881 T A intron_variant tolerant . . Ageing Contact
chr2.174298733.Gnas 2 174298733 T C Synonymous V->A APN Contact
chr2.174297894.Gnas 2 174297894 T A Synonymous N->K APN Contact
chr2.174299975.Gnas 2 174299975 T A Synonymous V->D APN Contact
chr2.174298697.Gnas 2 174298697 T C Non-synonymous V->A APN Contact
chr2.174298332.Gnas 2 174298332 T A Non-synonymous Y->Stop APN Contact

Pages

Stocks

Phenotype Contact
STOCK Mut1488/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:5470112 Mut1488 MGI:5470110 Mut1488
Heterozygotes are less than 75% of the weight of their wild-type sibs at birth; limited weight data at weaning suggest that there is a similar size difference at this time point. Mut1488/+ have small eyes, occasionally with domed heads, some have white toes. Breeding data indicate that there is reduced penetrance of the mutation (circa 50%) on a 3H1 background. Data from openings indicate that homozygotes are lost soon after implantation. Contact
B6.129S1-Gnas<tm2Kel>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3579575 Gnas<tm2Kel> MGI:95777 Gnas
There is a behavioural phenotype, response to novel environments as measured through activity in various tasks. Contact
129S(B6)-Gnas<tm2Kel>/H
Allele MGI ID Allele Name Gene MGI ID Gene Name
MGI:3579575 Gnas<tm2Kel> MGI:95777 Gnas
There is a behavioural phenotype: response to novel environments as measured through activity in various tasks. This targeted allele has been shown to represent a null for Nesp55 protein. Contact

Imprinting Genes

Loci name Chromosome Chromosome Region Expressed Allele Code
Gnas 2 dist 2 M

Imprinting Regions

Region Short Name Title Proximal Breakpoint Distal Breakpoint Phenotypic Freetext
dist 2 MatDp(dist2) T2Wa T28H Hypoactive, lethal
dist 2 PatDp(dist2) T2Wa T28H Hyperactive, oedematous, lethal