Phenotypes associated with this allele

• Allele Symbol: Sos1^tm1Dlb
• Allele Name: targeted mutation 1, David DL Botwell
• Allele ID: MGI:2155441
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sos1^tm1Dlb/Sos1^tm1Dlb	involves: 129S1/Sv * 129X1/SvJ	MGI:2176439
hm2	Sos1^tm1Dlb/Sos1^tm1Dlb	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2176438
cx3	Egfr^wa2/Egfr^wa2 Sos1^tm1Dlb/Sos1^+	involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn-a/A-Egfr^wa2 Wnt3a^vt	MGI:2176918

Genotype
MGI:2176439

hm1

• Allelic Composition: Sos1^tm1Dlb/Sos1^tm1Dlb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

prenatal lethality, complete penetrance ( J:38321 )

• die after E12, but before birth

cardiovascular system

abnormal cardiovascular system morphology ( J:38321 )

• Background Sensitivity: homozygotes on a 129 background exhibit similar phenotypes as those on a mixed 129 and C57BL/6J background, however they are more severely and more often affected

abnormal blood vessel morphology ( J:38321 )

• major vessels are distended

blood vessel congestion ( J:38321 )

• major vessels are congested

abnormal myocardial trabeculae morphology ( J:38321 )

• myocardium shows reduced trabeculation

abnormal heart atrium morphology ( J:38321 )

• the atria are often congested with blood

abnormal heart position or orientation ( J:38321 )

• orientation of the heart is abnormal

enlarged heart ( J:38321 )

abnormal heart ventricle morphology ( J:38321 )

• ventricles are often congested with blood

distended pericardium ( J:38321 )

• distended pericardium

hemorrhage ( J:38321 )

craniofacial

cleft palate ( J:38321 )

• seen occasionally

embryo

decreased embryo size ( J:38321 )

• from E9 onward, embryos are smaller than controls

pale yolk sac ( J:38321 )

• yolk sacs are severely depleted of nucleated red cells

nervous system

abnormal midbrain morphology ( J:38321 )

• occasionally see gross malformations of the mid-brain region

growth/size/body

enlarged heart ( J:38321 )

cleft palate ( J:38321 )

• seen occasionally

decreased embryo size ( J:38321 )

• from E9 onward, embryos are smaller than controls

muscle

abnormal myocardial trabeculae morphology ( J:38321 )

• myocardium shows reduced trabeculation

digestive/alimentary system

cleft palate ( J:38321 )

• seen occasionally

Genotype
MGI:2176438

hm2

• Allelic Composition: Sos1^tm1Dlb/Sos1^tm1Dlb
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

prenatal lethality, complete penetrance ( J:38321 )

• die after E12, but before birth

cardiovascular system

abnormal blood vessel morphology ( J:38321 )

• major vessels are distended

blood vessel congestion ( J:38321 )

• major vessels are congested

abnormal myocardial trabeculae morphology ( J:38321 )

• myocardium shows reduced trabeculation

abnormal heart atrium morphology ( J:38321 )

• the atria are often congested with blood

abnormal heart position or orientation ( J:38321 )

• orientation of the heart is abnormal

enlarged heart ( J:38321 )

abnormal heart ventricle morphology ( J:38321 )

• ventricles are often congested with blood

enlarged pericardium ( J:38321 )

• distended pericardium

hemorrhage ( J:38321 )

craniofacial

cleft palate ( J:38321 )

• seen occasionally

embryo

decreased embryo size ( J:38321 )

• from E9 onward, embryos are smaller than controls

pale yolk sac ( J:38321 )

• yolk sacs are severely depleted of nucleated red cells

nervous system

abnormal midbrain morphology ( J:38321 )

• occasionally see gross malformations of the mid-brain region

growth/size/body

enlarged heart ( J:38321 )

cleft palate ( J:38321 )

• seen occasionally

decreased embryo size ( J:38321 )

• from E9 onward, embryos are smaller than controls

muscle

abnormal myocardial trabeculae morphology ( J:38321 )

• myocardium shows reduced trabeculation

digestive/alimentary system

cleft palate ( J:38321 )

• seen occasionally

Genotype
MGI:2176918

cx3

• Allelic Composition: Egfr^wa2/Egfr^wa2; Sos1^tm1Dlb/Sos1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * B6EiC3Sn-a/A-Egfr^wa2 Wnt3a^vt

mortality/aging

preweaning lethality, incomplete penetrance ( J:38321 )

• lower than expected numbers of pups are obtained at weaning, although some survive to adulthood

cardiovascular system

cornea vascularization ( J:38321 )

vision/eye

abnormal ciliary body morphology ( J:38321 )

• ciliary body is either absent or rudimentary

abnormal cornea morphology ( J:38321 )

• cornea is thickened and shows signs of neovascularization, and contains fragments of pigmented tissue

cornea vascularization ( J:38321 )

anterior iris synechia ( J:38321 )

• lens and iris are attached to the cornea

increased cornea thickness ( J:38321 )

cornea opacity ( J:38321 )

• 1/3 develop a unilateral corneal opacity either at weaning or by 4 months of age

fused cornea and lens ( J:38321 )

• lens and iris are attached to the cornea

abnormal eye anterior chamber morphology ( J:38321 )

• anterior chamber is hypotrophic

lens vacuoles ( J:38321 )

abnormal lens fiber morphology ( J:38321 )

• lens has disorganized fibers

small lens ( J:38321 )

• lens in some mice is reduced in size

microphthalmia ( J:38321 )

• 1/3 develop unilateral microphthalmia either at weaning or by 4 months of age

eyelids open at birth ( J:38321 )

abnormal retina morphology ( J:38321 )

• retina exhibits areas of focal disorganization