Phenotypes associated with this allele

• Allele Symbol: Rreb1^em1Rtpl
• Allele Name: endonuclease-mediated mutation 1, Robert Rottapel
• Allele ID: MGI:7339258
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rreb1^em1Rtpl/Rreb1^em1Rtpl	C57BL/6J-Rreb1^em1Rtpl	MGI:7339279
ht2	Rreb1^em1Rtpl/Rreb1^+	C57BL/6J-Rreb1^em1Rtpl	MGI:7339281

Genotype
MGI:7339279

hm1

• Allelic Composition: Rreb1^em1Rtpl/Rreb1^em1Rtpl
• Genetic Background: C57BL/6J-Rreb1^em1Rtpl

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:296982 )

• lethality during early embryogenesis, with no homozygotes seen at E9.5

Genotype
MGI:7339281

ht2

• Allelic Composition: Rreb1^em1Rtpl/Rreb1⁺
• Genetic Background: C57BL/6J-Rreb1^em1Rtpl

cardiovascular system

increased myocardial fiber size ( J:296982 )

• cross-sectional area of cardiomyocytes is increased more than 2-fold and is present in younger mice

decreased heart weight ( J:296982 )

• heart weight to tibial length is reduced at 6 months of age

cardiac hypertrophy ( J:296982 )

• markers of the fetal gene program and cardiac hypertrophy are upregulated in 6-month-old mice

heart left ventricle hypertrophy ( J:296982 )

• mice develop left ventricular hypertrophy at 6 months of age with pronounced cardiac wall thickening

decreased cardiac muscle contractility ( J:296982 )

• mice show an age-related decrease in fractional shortening and % fractional shortening at 6 moths of age but not in younger mice

cardiomyopathy ( J:296982 )

• hypertrophic cardiomyopathy

cellular

increased cell proliferation ( J:296982 )

• mouse embryonic fibroblasts exhibit increased proliferation following stimulation with fetal bovine serum

craniofacial

broad snout ( J:296982 )

• mice have a wider blunted nose

short snout ( J:296982 )

• mice have a wider blunted nose

growth/size/body

cardiac hypertrophy ( J:296982 )

• markers of the fetal gene program and cardiac hypertrophy are upregulated in 6-month-old mice

heart left ventricle hypertrophy ( J:296982 )

• mice develop left ventricular hypertrophy at 6 months of age with pronounced cardiac wall thickening

broad snout ( J:296982 )

• mice have a wider blunted nose

short snout ( J:296982 )

• mice have a wider blunted nose

decreased body size ( J:296982 )

• mice are slightly smaller, with normal weight but reduced length

decreased body length ( J:296982 )

• mice are slightly shorter in length

muscle

increased myocardial fiber size ( J:296982 )

• cross-sectional area of cardiomyocytes is increased more than 2-fold and is present in younger mice

heart left ventricle hypertrophy ( J:296982 )

• mice develop left ventricular hypertrophy at 6 months of age with pronounced cardiac wall thickening

decreased cardiac muscle contractility ( J:296982 )

• mice show an age-related decrease in fractional shortening and % fractional shortening at 6 moths of age but not in younger mice

cardiomyopathy ( J:296982 )

• hypertrophic cardiomyopathy

vision/eye

ocular hypertelorism ( J:296982 )

• orbital hypertelorism

increased inner canthal distance ( J:296982 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
RASopathy		DOID:0080690		J:296982