Phenotypes Associated with This Genotype

Genotype
MGI:3692323

• Allelic Composition: Slc25a19^tm1Mjl/Slc25a19^tm1Mjl
• Genetic Background: either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)

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

Examples of Slc25a19^tm1Mjl/⁺ control and Slc25a19^tm1Mjl/Slc25a19^tm1Mjl embryos at E10.5

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:115337 )

• 100% die by E12, with death evident at E10.5 and E11

growth/size/body

decreased embryo size ( J:115337 )

microcephaly ( J:115337 )

embryo

embryonic growth arrest ( J:115337 )

• some embryos arrest early in development, resulting in amorphic embryos

decreased embryo size ( J:115337 )

open neural tube ( J:115337 )

• edges of open neural tube are ruffled and fused at the hind brain

wavy neural tube ( J:115337 )

• in the trunk, the fused neural tube is convoluted, suggesting irregular relative growth rates of neural to nonneural tissue

embryo tissue necrosis ( J:115337 )

• most E11.5 mutants are necrotic

pale yolk sac ( J:115337 )

• yolk sac contains few erythrocytes at E10.5

hematopoietic system

anemia ( J:115337 )

• exhibit very few erythrocytes in embryos

homeostasis/metabolism

abnormal amniotic fluid composition ( J:115337 )

• amniotic fluid alpha-ketogluterate levels are elevated 5-fold

ketoaciduria ( J:115337 )

abnormal enzyme/coenzyme activity ( J:115337 )

• alpha-ketogluterate dehydrogenase and pyruvate dehydrogenase complex activities are severely reduced in fibroblasts

nervous system

open neural tube ( J:115337 )

• edges of open neural tube are ruffled and fused at the hind brain

wavy neural tube ( J:115337 )

• in the trunk, the fused neural tube is convoluted, suggesting irregular relative growth rates of neural to nonneural tissue

absent brain ventricles ( J:115337 )

• no evidence of ventricle formation

exencephaly ( J:115337 )

• exencephaly varies but commonly involves the entire brain

cellular

abnormal mitochondrial physiology ( J:115337 )

• mitochondrial thiamine pyrophosphate (ThPP) is not detectable in MEFs, however have normal mitochondrial ribo- and deoxyribonucleoside triphosphate levels

renal/urinary system

ketoaciduria ( J:115337 )