Phenotypes Associated with This Genotype

Genotype
MGI:5560504

• Allelic Composition: Lrp2^b2b2671Clo/Lrp2^b2b2671Clo
• Genetic Background: C57BL/6J-Lrp2^b2b2671Clo

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

Mutant 2671-006-3 (E16.5) exhibits PTA with a RAA and thin ventricle wall which is confirmed by EFIC imaging as ventricular non-compaction

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

right aortic arch ( J:175213 )

abnormal myocardium compact layer morphology ( J:175213 )

• excessive myocardial trabeculation or noncompaction

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

persistent truncus arteriosus ( J:175213 )

• Type A1, A2, A4

ventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

short snout ( J:175213 )

embryo

umbilical hernia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

limbs/digits/tail

kinked tail ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

hydronephrosis ( J:175213 )

skeleton

micrognathia ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

micrognathia ( J:175213 )

short snout ( J:175213 )

kidney cyst ( J:175213 )

muscle

abnormal myocardium compact layer morphology ( J:175213 )

• excessive myocardial trabeculation or noncompaction

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )