Phenotypes Associated with This Genotype

Genotype
MGI:6191758

• Allelic Composition: Trp53bp2^tm1Xlu/Trp53bp2^tm1Xlu
• Genetic Background: B6.129S6-Trp53bp2^tm1Xlu

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

mortality/aging

neonatal lethality, complete penetrance ( J:240594 )

• 100% neonatal lethality, with no mice surviving after birth

growth/size/body

cleft palate ( J:240594 )

• 67% of embryos have cleft palate

narrow head ( J:240594 )

• dolichocephaly in some embryos

cardiovascular system

umbilical vein stenosis ( J:240594 )

• narrow umbilical vein in 50% of embryos

ductus venosus stenosis ( J:240594 )

• narrow ductus venosus in 50% of mice

abnormal heart position or orientation ( J:240594 )

• embryos have abnormal heart position involving a 30-40 degree twist along the coronal axis at E13.5 and E14.5

ventricular septal defect ( J:240594 )

• 67% of embryos have a ventricular septal defect

intracranial hemorrhage ( J:240594 )

• 31% of embryos exhibit intracranial hemorrhages

craniofacial

micrognathia ( J:240594 )

• in some embryos

cleft palate ( J:240594 )

• 67% of embryos have cleft palate

narrow head ( J:240594 )

• dolichocephaly in some embryos

digestive/alimentary system

cleft palate ( J:240594 )

• 67% of embryos have cleft palate

embryo

umbilical vein stenosis ( J:240594 )

• narrow umbilical vein in 50% of embryos

abnormal neural tube morphology ( J:240594 )

• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds

• neural tube defects range from spina bifida to craniorachischisis with some spina bifida

• occasional overgrowth of neural tissue is seen in embryos with neural tube defects

spina bifida ( J:240594 )

• seen in some embryos

craniorachischisis ( J:240594 )

• seen in some embryos

wavy neural tube ( J:240594 )

• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects

endocrine/exocrine glands

abnormal sex gland morphology ( J:240594 )

• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

nervous system

intracranial hemorrhage ( J:240594 )

• 31% of embryos exhibit intracranial hemorrhages

abnormal neural tube morphology ( J:240594 )

• Background Sensitivity: 46% of embryos exhibit neural tube defects, a much higher percentage than on the BALB/c or mixed backgrounds

• neural tube defects range from spina bifida to craniorachischisis with some spina bifida

• occasional overgrowth of neural tissue is seen in embryos with neural tube defects

spina bifida ( J:240594 )

• seen in some embryos

craniorachischisis ( J:240594 )

• seen in some embryos

wavy neural tube ( J:240594 )

• spinal column of the neural tube is often wrinkled, even in embryos without neural tube defects

abnormal trigeminal nerve morphology ( J:240594 )

• a high percentage of embryos exhibit abnormal trigeminal nerve

abnormal dorsal root ganglion morphology ( J:240594 )

• a high percentage of embryos exhibit abnormal spinal ganglia

renal/urinary system

abnormal urethra morphology ( J:240594 )

• a high percentage of embryos exhibit urethral abnormalities

reproductive system

abnormal sex gland morphology ( J:240594 )

• a high percentage of embryos exhibit gonadal abnormalities resulting in unclear gender at E14.5

skeleton

micrognathia ( J:240594 )

• in some embryos

vision/eye

coloboma ( J:240594 )

• seen in some embryos

microphthalmia ( J:240594 )

• seen in some embryos

abnormal retina morphology ( J:240594 )

• retinal abnormalities

anophthalmia ( J:240594 )

• some mice show uni/bi-lateral eye agenesis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 1q41-q42 deletion syndrome		DOID:0060412	OMIM:612530	J:240594