Phenotypes Associated with This Genotype

Genotype
MGI:5659950

• Allelic Composition: Braf^tm1Wds/Braf^tm1Wds; Raf1^tm2Bacc/Raf1^tm2Bacc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:144862 )

• mice die in late gestation

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• in 4 of 6 mice at E17.5

abnormal conotruncus morphology ( J:144862 )

• mild conotruncal defects at E16.5

double outlet right ventricle ( J:144862 )

• at E16.5

ventricular septal defect ( J:144862 )

• in 4 of 6 mice at E17.5 with 1 mouse also exhibiting double outlet right ventricle

endocrine/exocrine glands

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

abnormal thyroid gland morphology ( J:144862 )

• hypoplastic or malpositioned in 2 of 3 mice at E16.5

small thyroid gland ( J:144862 )

• hypoplastic or malpositioned in 2 of 3 mice at E16.5

craniofacial

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

growth/size/body

growth/size/body region phenotype ( J:144862 )

N • mice exhibit normal embryonic crown-rump length

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:144862 )

N • mice exhibit normal external ear

skeleton

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

immune system

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

hematopoietic system

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiofaciocutaneous syndrome		DOID:0060233	OMIM:PS115150	J:144862