Phenotypes Associated with This Genotype

Genotype
MGI:7264531

• Allelic Composition: Pbx1^em1Dunw/Pbx1^em1Dunw
• Genetic Background: C57BL/6J-Pbx1^em1Dunw

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

reproductive system

abnormal primary sex determination ( J:320934 )

• delayed gonad differentiation, indifferent at E14.5, ectopic at E17.5

renal/urinary system

pelvic kidney ( J:320934 )

immune system

thymus hypoplasia ( J:320934 )

ectopic thymus ( J:320934 )

spleen hypoplasia ( J:320934 )

craniofacial

cleft secondary palate ( J:320934 )

cardiovascular system

persistent truncus arteriosus ( J:320934 )

ventricular septal defect ( J:320934 )

embryo

umbilical hernia ( J:320934 )

endocrine/exocrine glands

adrenal gland hypoplasia ( J:320934 )

thymus hypoplasia ( J:320934 )

ectopic thymus ( J:320934 )

growth/size/body

cleft secondary palate ( J:320934 )

hematopoietic system

thymus hypoplasia ( J:320934 )

ectopic thymus ( J:320934 )

spleen hypoplasia ( J:320934 )

homeostasis/metabolism

subcutaneous edema ( J:320934 )

behavior/neurological

hunched posture ( J:320934 )

integument

subcutaneous edema ( J:320934 )

liver/biliary system

liver hypoplasia ( J:320934 )

nervous system

decreased brain size ( J:320934 )

• hypoplastic

digestive/alimentary system

cleft secondary palate ( J:320934 )

abnormal stomach position or orientation ( J:320934 )

• ectopic

esophageal atresia ( J:320934 )

• narrow

stomach hypoplasia ( J:320934 )

respiratory system

larynx stenosis ( J:320934 )

pulmonary hypoplasia ( J:320934 )

trachea occlusion ( J:320934 )

• however, atresia resolves by E17.5

vision/eye

eyelids open at birth ( J:320934 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		DOID:0112359	OMIM:617641	J:320934