Phenotypes associated with this allele

• Allele Symbol: Gnas^tm1Kel
• Allele Name: targeted mutation 1, Gavin Kelsey
• Allele ID: MGI:3050783
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gnas^tm1Kel/Gnas^+	involves: 129S2/SvPas	MGI:5320914
ht2	Gnas^tm1Kel/Gnas^+	involves: 129S2/SvPas * C57BL/6J	MGI:3050835
ht3	Gnas^tm1Kel/Gnas^+	involves: 129S2/SvPas * C57BL/6J * CD-1	MGI:3050842

Genotype
MGI:5320914

ht1

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

• ♀: 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

Genotype
MGI:3050835

ht2

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

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

Genotype
MGI:3050842

ht3

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

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