Phenotypes associated with this allele

• Allele Symbol: Rps6ka3^tm1Ljg
• Allele Name: targeted mutation 1, Laurie J Goodyear
• Allele ID: MGI:2387473
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rps6ka3^tm1Ljg/Rps6ka3^tm1Ljg	involves: 129 * C57BL/6	MGI:3042281
ot2	Rps6ka3^tm1Ljg/Y	involves: 129 * C57BL/6	MGI:3042280

Genotype
MGI:3042281

hm1

• Allelic Composition: Rps6ka3^tm1Ljg/Rps6ka3^tm1Ljg
• Genetic Background: involves: 129 * C57BL/6

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

reproductive system

infertility ( J:83536 )

♀ • no pups were produced from matings including homozygous females

Genotype
MGI:3042280

ot2

• Allelic Composition: Rps6ka3^tm1Ljg/Y
• Genetic Background: involves: 129 * C57BL/6

adipose tissue

decreased white adipose tissue amount ( J:83536 )

♂ • in 1 year old animals, a 50-80% reduction in the size of fat deposits was noted; increasing severity with age

muscle

decreased skeletal muscle glycogen level ( J:67575 )

♂ • lower skeletal muscle glycogen concentration in homozygous mice

behavior/neurological

abnormal learning/memory/conditioning ( J:67575 )

♂ • impaired learning ability; mice took 7 times longer to find a submerged platform in a water filled chamber after several trials

impaired coordination ( J:67575 )

♂ • mice had impaired ability to remain on a rotating stick compared to controls

growth/size/body

decreased body size ( J:67575 )

♂ • animals are 10% smaller than controls

decreased body weight ( J:83536 )

♂ • reduced weight on regular diet; on high fat diet, mice gained significantly less weight than controls

decreased body length ( J:67575 )

♂ • animals are 14% shorter than controls

homeostasis/metabolism

increased circulating glucose level ( J:83536 )

♂ • elevated fasting glucose levels

increased circulating insulin level ( J:83536 )

♂ • elevated fasting insulin level

decreased circulating leptin level ( J:83536 )

♂ • serum concentration was reduced by 50% at 20 weeks of age in mice on a normal diet; on high fat diet, serum leptin concentrations remained unchanged or lower, while control mice had significantly higher leptin concentrations

impaired glucose tolerance ( J:83536 )

♂

decreased skeletal muscle glycogen level ( J:67575 )

♂ • lower skeletal muscle glycogen concentration in homozygous mice

insulin resistance ( J:83536 )

♂

reproductive system

infertility ( J:83536 )

♂ • no pups were produced from matings including hemizygous males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Lowry syndrome		DOID:3783	OMIM:303600	J:67575 , J:83536