Phenotypes associated with this allele

• Allele Symbol: Col4a2^{em1(IMPC)Wtsi}
• Allele Name: endonuclease-mediated mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:6140180
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col4a2^em1(IMPC)Wtsi/Col4a2^em1(IMPC)Wtsi	C57BL/6N-Col4a2^em1(IMPC)Wtsi/WtsiOulu	MGI:6161265
ht2	Col4a2^em1(IMPC)Wtsi/Col4a2^+	C57BL/6N-Col4a2^em1(IMPC)Wtsi/WtsiOulu	MGI:7388734

Genotype
MGI:6161265

hm1

• Allelic Composition: Col4a2^{em1(IMPC)Wtsi}/Col4a2^{em1(IMPC)Wtsi}
• Genetic Background: C57BL/6N-Col4a2^{em1(IMPC)Wtsi}/WtsiOulu

Data Sources

IMPC Data for Col4a2

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

cardiovascular system

retroesophageal right subclavian artery ( J:239583 )

DMDD

aorta stenosis ( J:239583 )

DMDD

abnormal vertebral artery topology ( J:239583 )

DMDD

additional anastomosis between intracranial vertebral arteries ( J:239583 )

DMDD

abnormal cranial blood vasculature morphology ( J:239583 )

DMDD

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

absent ductus venosus valve ( J:239583 )

DMDD

abnormal hepatic vein morphology ( J:239583 )

DMDD

abnormal inferior vena cava morphology ( J:239583 )

DMDD

arteriovenous malformation ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

double outlet right ventricle ( J:239583 )

DMDD

abnormal interatrial septum morphology ( J:239583 )

DMDD

muscular ventricular septal defect ( J:239583 )

DMDD

bicuspid aortic valve ( J:239583 )

DMDD

craniofacial

abnormal outer ear morphology ( J:239583 )

DMDD

digestive/alimentary system

abnormal intestine placement ( J:239583 )

DMDD

embryo

embryo cyst ( J:239583 )

DMDD

endocrine/exocrine glands

small thymus ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

abnormal thyroid gland morphology ( J:239583 )

DMDD

abnormal thyroid gland isthmus morphology ( J:239583 )

DMDD

absent thyroid gland isthmus ( J:239583 )

DMDD

small thyroid gland ( J:239583 )

DMDD

abnormal ventral pancreas morphology ( J:239583 )

DMDD

abnormal testis morphology ( J:239583 )

DMDD

growth/size/body

abnormal outer ear morphology ( J:239583 )

DMDD

embryo cyst ( J:239583 )

DMDD

thoracoschisis ( J:239583 )

DMDD

heterochrony ( J:239583 )

DMDD

hearing/vestibular/ear

abnormal outer ear morphology ( J:239583 )

DMDD

hematopoietic system

small thymus ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

homeostasis/metabolism

subcutaneous edema ( J:239583 )

DMDD

immune system

small thymus ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

blood in lymph vessels ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

limbs/digits/tail

abnormal autopod morphology ( J:239583 )

DMDD

abnormal tail morphology ( J:239583 )

DMDD

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - WTSI

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

embryo tumor ( J:239583 )

DMDD

nervous system

increased trigeminal neuroma incidence ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

abnormal hindbrain morphology ( J:239583 )

DMDD

abnormal trigeminal ganglion morphology ( J:239583 )

DMDD

abnormal oculomotor nerve morphology ( J:239583 )

DMDD

reproductive system

abnormal testis morphology ( J:239583 )

DMDD

respiratory system

abnormal left lung morphology ( J:239583 )

DMDD

abnormal right lung morphology ( J:239583 )

DMDD

skeleton

absent costovertebral joint ( J:239583 )

DMDD

abnormal rib morphology ( J:239583 )

DMDD

abnormal cervical rib ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

abnormal lens morphology ( J:239583 )

DMDD

aphakia ( J:239583 )

DMDD

abnormal optic cup morphology ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

coloboma ( J:239583 )

DMDD

retrolental blood ( J:239583 )

DMDD

Genotype
MGI:7388734

ht2

• Allelic Composition: Col4a2^{em1(IMPC)Wtsi}/Col4a2⁺
• Genetic Background: C57BL/6N-Col4a2^{em1(IMPC)Wtsi}/WtsiOulu

Data Sources

IMPC Data for Col4a2

homeostasis/metabolism

decreased circulating fructosamine level ( J:211773 )

♂

IMPC - WTSI

decreased circulating serum albumin level ( J:211773 )

♂

IMPC - WTSI

decreased circulating total protein level ( J:211773 )

♂

IMPC - WTSI