Phenotypes associated with this allele

• Allele Symbol: Slc23a2^tm1Nbm
• Allele Name: targeted mutation 1, Robert L Nussbaum
• Allele ID: MGI:2180333
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc23a2^tm1Nbm/Slc23a2^tm1Nbm	129S6/SvEvTac-Slc23a2^tm1Nbm	MGI:3029465

Genotype
MGI:3029465

hm1

• Allelic Composition: Slc23a2^tm1Nbm/Slc23a2^tm1Nbm
• Genetic Background: 129S6/SvEvTac-Slc23a2^tm1Nbm

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

mortality/aging

neonatal lethality, complete penetrance ( J:76194 )

• homozygotes are apparently normal at birth but die within minutes

cardiovascular system

intracranial hemorrhage ( J:76194 )

• hemorrhaging over the convex surfaces of the brain but no abnormal bleeding was seen in other organs

endocrine/exocrine glands

abnormal adrenocortical cell morphology ( J:85988 )

• adrenocortical cells have a reduction in mitochondria and smooth endoplasmic reticulum as well as an increased abundance of liposomes

abnormal adrenergic chromaffin cell morphology ( J:85988 )

• marked reduction of secretory granules in chromaffin cells of adrenal

• increased number of apoptotic chromaffin cells

abnormal gland physiology ( J:76194 )

abnormal adrenal gland secretion ( J:85988 )

homeostasis/metabolism

decreased circulating corticosterone level ( J:85988 )

• by 31%

abnormal adrenaline level ( J:85988 )

• 81% reduction

• results in norepinephrine (synthesis reduced 50%) becoming the predominant adrenal catecholamine

abnormal dopamine level ( J:85988 )

• 100% increase in dopamine levels measured in cardiac tissue

• 250% increase in dopamine to norepinephrine ratio

abnormal vitamin C level ( J:76194 )

• ascorbic acid levels were markedly reduced in pancreas, pituitary gland, liver, muscle, kidney and nervous system tissue

• supplementing mothers with ascorbic acid had no effect on levels in pups

respiratory system

abnormal lung development ( J:76194 )

• postnatal expansion of lungs failed to occur

respiratory failure ( J:76194 )

• newborns are unable to breath which leads to their death

nervous system

intracranial hemorrhage ( J:76194 )

• hemorrhaging over the convex surfaces of the brain but no abnormal bleeding was seen in other organs

abnormal adrenergic chromaffin cell morphology ( J:85988 )

• marked reduction of secretory granules in chromaffin cells of adrenal

• increased number of apoptotic chromaffin cells