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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gnastm1Lsw
targeted mutation 1, Lee S Weinstein
MGI:2152743
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gnastm1Lsw/Gnastm1Lsw involves: 129S4/SvJae * CD-1 MGI:4352708
ht2
Gnastm1Lsw/Gnas+ involves: 129S4/SvJae MGI:4352712
ht3
Gnastm1Lsw/Gnas+ involves: 129S4/SvJae * CD-1 MGI:4352709


Genotype
MGI:4352708
hm1
Allelic
Composition
Gnastm1Lsw/Gnastm1Lsw
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnastm1Lsw mutation (0 available); any Gnas mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice are detected at birth




Genotype
MGI:4352712
ht2
Allelic
Composition
Gnastm1Lsw/Gnas+
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnastm1Lsw mutation (0 available); any Gnas mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• 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




Genotype
MGI:4352709
ht3
Allelic
Composition
Gnastm1Lsw/Gnas+
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnastm1Lsw mutation (0 available); any Gnas mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the few mice that survive to weaning are fertile with normal life spans
• when the allele is inherited paternally, 77% of mice die within the first 24 hours after birth
• when the allele is inherited maternally, 80% of mice die between 7 and 21 days of birth

growth/size/body
• when the allele is inherited maternally, ears are round and inset unlike in wild-type mice
• when the allele is inherited paternally, mice exhibit narrow bodies compared to wild-type mice
• when the allele is inherited paternally
• when the allele is inherited maternally, mice have wide, square bodies compared with wild-type mice
• when the allele is inherited maternally
• by day 60 when the allele is inherited paternally
• by day 60 when the allele is inherited maternally
• when the allele is inherited paternally, mice are leaner than normal
• within days of birth mice inheriting the allele maternally tend towards obese and mice inheriting the allele paternally are lean
• 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
• in early adulthood when the allele is inherited maternally
• regardless of allele inheritance, body length is 90% of wild-type
• in the few surviving mice regardless of allele inheritence (J:49340)
• regardless of allele inheritance (J:60971)

behavior/neurological
• when the allele is inherited paternally, 77% of mice do not suckle milk unlike wild-type mice
• when the allele is inherited maternally, 80% of mice exhibit poor righting reflex between 7 and 21 days of birth unlike wild-type mice
• when the allele is inherited maternally, 80% of mice develop tremors between 7 and 21 days of birth unlike wild-type mice
• when the allele is inherited maternally, 80% of mice develop ataxia between 7 and 21 days of birth unlike wild-type mice
• when the allele is inherited maternally, 80% of mice develop imbalance between 7 and 21 days of birth unlike wild-type mice
• when the allele is inherited paternally, mice exhibit arched back unlike in wild-type mice
• when the allele is inherited maternally, mice exhibit reduced ambulatory activity compared with wild-type mice
• when the allele is inherited paternally, mice exhibit increased total and ambulatory activity compared with wild-type mice
• when the allele is inherited paternally, 77% of mice become inactive unlike wild-type mice

homeostasis/metabolism
N
• mice exhibit normal serum thyroid stimulating hormone, T3, and T4 levels
• when the allele is inherited maternally
• when the allele is inherited paternally
• when the allele is inherited paternally
• when the allele is inherited maternally
• regardless of allele inheritance, DOPA levels are elevated in the urine compared to in wild-type mice
• when the allele is inherited maternally, urine norepinepherine levels are 20% less than in wild-type mice
• when the allele is inherited paternally, urine norepinepherine levels are 20% more than in wild-type mice
• when the allele is inherited maternally
• 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
• 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
• in fasting mice inheriting the allele maternally
• in fasting mice regardless of allele inheritance
• 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
• regardless of allele inheritance, the hypoglycemic response to insulin injection is greater than in wild-type mice
• when the allele is inherited maternally

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

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

nervous system
• 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
• regardless of allele inheritance, DOPA levels are elevated in the urine compared to in wild-type mice
• when the allele is inherited maternally, urine norepinepherine levels are 20% less than in wild-type mice
• when the allele is inherited paternally, urine norepinepherine levels are 20% more than in wild-type mice
• when the allele is inherited maternally, mice exhibit immature kidneys unlike in wild-type mice

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

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

muscle
• 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

adipose tissue
• when the allele is inherited paternally, white adipose tissue lipid per cell is decreased compared to in wild-type mice
• when the allele is inherited paternally, white adipose tissue lipid per cell is increased compared to in wild-type mice
• 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
• when the allele is inherited paternally, brown adipose tissue pads are smaller than in wild-type mice 2 days after birth
• when the allele is inherited maternally, brown adipose tissue pads are larger than in wild-type mice 2 days after birth
• when the allele is inherited maternally
• when the allele is inherited paternally, epididymal white adipose tissue pad weight is decreased compared to in wild-type mice
• when the allele is inherited paternally, interscapular brown adipose tissue pad weight is decreased compared to in wild-type mice
• when the allele is inherited maternally, interscapular brown adipose tissue pad weight is increased compared to in wild-type mice

integument
• 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
• when the allele is inherited maternally

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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory