Phenotypes associated with this allele

• Allele Symbol: Gnas^tm3Kel
• Allele Name: targeted mutation 3, Gavin Kelsey
• Allele ID: MGI:3830998
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gnas^tm3Kel/Gnas^+	involves: 129P2/OlaHsd * C57BL/6J * DS/2	MGI:3831083

Genotype
MGI:3831083

ht1

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

• ♀: 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