Phenotypes Associated with This Genotype

Genotype
MGI:5750594

• Allelic Composition: Tg(CMV-cre)1Cgn/0; Trp53^tm4Att/Trp53⁺
• Genetic Background: involves: 129S4/SvJae * BALB/cJ * C57BL/6J

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

cardiovascular system

abnormal cardiac outflow tract development ( J:217080 )

• 83% of hearts exhibit outflow tract defects such as persistent truncus arteriosus and double outlet right ventricle

persistent truncus arteriosus ( J:217080 )

• in 33% of E12.5 embryos

abnormal atrioventricular cushion morphology ( J:217080 )

• atrioventricular cushions fail to undergo remodeling

double outlet right ventricle ( J:217080 )

ventricular septal defect ( J:217080 )

cellular

increased apoptosis ( J:217080 )

• increase in apoptosis in the retina, neural crest cells, the thymus, neuroepithelium, and otic vesicles

decreased cell proliferation ( J:217080 )

• decrease in proliferation in the retina, neural crest cells, the thymus, neuroepithelium, and otic vesicles

craniofacial

abnormal craniofacial morphology ( J:217080 )

• E13.5 or older embryos commonly exhibit craniofacial defects, including square-shaped faces, short lower jaws, cleft lip and cleft palate

short mandible ( J:217080 )

• short lower jaws 74% of embryos

square face ( J:217080 )

• square-shaped faces in some E13.5 or older embryos

cleft upper lip ( J:217080 )

• in some E13.5 or older embryos

cleft palate ( J:217080 )

• in some E13.5 or older embryos

protruding tongue ( J:217080 )

• protruding tongue due to short jaw

abnormal outer ear morphology ( J:217080 )

• 41% of embryos exhibit defects in external ear formation

digestive/alimentary system

cleft palate ( J:217080 )

• in some E13.5 or older embryos

protruding tongue ( J:217080 )

• protruding tongue due to short jaw

embryo

abnormal neural tube closure ( J:217080 )

• neural tube closure defects

endocrine/exocrine glands

small thymus ( J:217080 )

growth/size/body

square face ( J:217080 )

• square-shaped faces in some E13.5 or older embryos

cleft upper lip ( J:217080 )

• in some E13.5 or older embryos

cleft palate ( J:217080 )

• in some E13.5 or older embryos

protruding tongue ( J:217080 )

• protruding tongue due to short jaw

abnormal outer ear morphology ( J:217080 )

• 41% of embryos exhibit defects in external ear formation

hearing/vestibular/ear

abnormal outer ear morphology ( J:217080 )

• 41% of embryos exhibit defects in external ear formation

abnormal inner ear morphology ( J:217080 )

• 71% of embryos exhibit a spectrum of inner ear defects, ranging from mild (either truncated posterior semi-circular canal or fused to the common crus) to highly abnormal (extreme inner ear bone malformation)

hematopoietic system

small thymus ( J:217080 )

immune system

small thymus ( J:217080 )

limbs/digits/tail

decreased bone mineral density of humerus ( J:217080 )

short humerus ( J:217080 )

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:217080 )

• embryonic lethality between E13.5 and E15.5

nervous system

abnormal neural tube closure ( J:217080 )

• neural tube closure defects

exencephaly ( J:217080 )

• 63 % of E13.5 or older embryos exhibit exencephaly

renal/urinary system

abnormal kidney development ( J:217080 )

• kidneys show branching defects

small kidney ( J:217080 )

skeleton

short mandible ( J:217080 )

• short lower jaws 74% of embryos

short humerus ( J:217080 )

decreased bone mineral density ( J:217080 )

• reduction in bone density in the cranium, nasal cavity, ulna, humerus, mandible and femur

decreased bone mineral density of humerus ( J:217080 )

decreased bone mineral density of femur ( J:217080 )

abnormal skeleton development ( J:217080 )

• delay in bone formation in embryos

vision/eye

retina coloboma ( J:217080 )

• in 59% of embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CHARGE syndrome		DOID:0050834	OMIM:214800	J:217080