Phenotypes associated with this allele

• Allele Symbol: Ghr^tm1Arge
• Allele Name: targeted mutation 1, Argiris Efstratiadis
• Allele ID: MGI:2681515
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ghr^tm1Arge/Ghr^tm1Arge	involves: 129S/SvEv * C57BL/6J	MGI:2681520
cx2	Ghr^tm1Arge/Ghr^tm1Arge Igf1^tm1Arge/Igf1^tm1Arge	involves: 129S/SvEv * C57BL/6J * DBA * MF1	MGI:4456249

Genotype
MGI:2681520

hm1

• Allelic Composition: Ghr^tm1Arge/Ghr^tm1Arge
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

growth/size/body

proportional dwarf ( J:66913 )

postnatal growth retardation ( J:66913 )

• weight at birth and P10 is normal, however after 2 weeks post birth, mice show growth retardation

reproductive system

delayed sexual maturation ( J:66913 )

♀ • delay in sexual maturation of females

decreased litter size ( J:66913 )

hematopoietic system

small spleen ( J:66913 )

• spleen size is disproportionately reduced in size

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:66913 )

• serum IGF1 levels are undetectable

increased circulating growth hormone level ( J:66913 )

immune system

small spleen ( J:66913 )

• spleen size is disproportionately reduced in size

renal/urinary system

small kidney ( J:66913 )

• kidney size is disproportionately reduced in size

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:66913 )

• proliferative zone of chondrocytes is shorter at p22 and p30

• chondrocyte proliferation in the proliferative zone is 63% of wild-type

abnormal long bone hypertrophic chondrocyte zone ( J:66913 )

• reduction in the rate of production and maturation of hypertrophic zone chondrocytes

decreased width of hypertrophic chondrocyte zone ( J:66913 )

• hypertrophic zone of chondrocytes is shorter at p22 and p30

abnormal trabecular bone morphology ( J:66913 )

• reduction in the height of the primary spongiosa

abnormal chondrocyte morphology ( J:66913 )

• average height of a hypertrophic chondrocyte is only about 70% of the controls

delayed endochondral bone ossification ( J:66913 )

• delay in development of diaphyseal, but not epiphyseal, secondary ossification centers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Laron syndrome		DOID:9521	OMIM:262500	J:66913

Genotype
MGI:4456249

cx2

• Allelic Composition: Ghr^tm1Arge/Ghr^tm1Arge; Igf1^tm1Arge/Igf1^tm1Arge
• Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

growth/size/body

proportional dwarf ( J:66913 )

• double mutants are smaller than either single mutant mouse

postnatal growth retardation ( J:66913 )

• weight at birth and P10 is normal, however after 2 weeks post birth, mice are growth retarded

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:66913 )

• proliferative zone of chondrocytes is shorter at p22 and p30

• chondrocytes proliferation in the proliferative zone is 43% of wild-type

abnormal long bone hypertrophic chondrocyte zone ( J:66913 )

• reduction in the rate of production and maturation of hypertrophic zone chondrocytes

decreased width of hypertrophic chondrocyte zone ( J:66913 )

• hypertrophic zone of chondrocytes is shorter at p22 and p30

abnormal trabecular bone morphology ( J:66913 )

• reduction in the height of the primary spongiosa

abnormal chondrocyte morphology ( J:66913 )

• average height of a hypertrophic chondrocyte is only about 70% of the controls

delayed endochondral bone ossification ( J:66913 )

• delay in development of diaphyseal and epiphyseal secondary ossification centers due to hypoproliferation and reduced size of hypertrophic chondrocytes