Phenotypes associated with this allele

• Allele Symbol: Kynu^em1Dunw
• Allele Name: endonuclease-mediated mutation 1, Sally L Dunwoodie
• Allele ID: MGI:6285803
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kynu^em1Dunw/Kynu^em1Dunw	involves: C57BL/6N	MGI:6285839

Genotype
MGI:6285839

hm1

• Allelic Composition: Kynu^em1Dunw/Kynu^em1Dunw
• Genetic Background: involves: C57BL/6N

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

homeostasis/metabolism

abnormal amino acid metabolism ( J:272339 )

• mice exhibit 3-hydroxykynurenine (3HK) levels that are more than 70 times the levels in wild-type or heterozygous mice

• however, NAD(H) levels are normal

cellular

maternal effect ( J:272339 )

• all embryos (heterozygotes and homozygotes) from homozygous female mice fed a niacin-free diet and mated with heterozygous males die

• embryos from homozygous female mice fed a niacin-free diet supplemented with 5 mg nicotinic acid per liter of drinking water between E7.5 and E12.5 show better sustained embryogenesis with some live null embryos present and when supplemented with 10 or 15 mg nicotinic acid per liter of drinking water, mostly all embryos are normal

cardiovascular system

abnormal heart morphology ( J:272339 )

• heart defects are seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

craniofacial

cleft palate ( J:272339 )

• cleft palate is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

digestive/alimentary system

cleft palate ( J:272339 )

• cleft palate is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

embryo

abnormal embryo development ( J:272339 )

• caudal agenesis is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

growth/size/body

cleft palate ( J:272339 )

• cleft palate is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

limbs/digits/tail

syndactyly ( J:272339 )

• syndactyly is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

clubfoot ( J:272339 )

• talipes is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

renal/urinary system

small kidney ( J:272339 )

• small kidney is seen in homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5

• litters from homozygous females fed a niacin-free diet supplement with 10 mg of nicotinic acid per liter are normal, except that kidneys of homozygous embryos are smaller than those of heterozygous control embryos

skeleton

abnormal vertebrae morphology ( J:272339 )

• homozygous embryos from homozygous female mice fed a niacin-free diet supplemented with nicotinic acid between E7.5 and E12.5 exhibit multiple defects in vertebral segmentation