Phenotypes associated with this allele

• Allele Symbol: Pou3f3^tm1Tno
• Allele Name: targeted mutation 1, Tetsuo Noda
• Allele ID: MGI:2673387
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou3f3^tm1Tno/Pou3f3^tm1Tno	involves: 129S4/SvJae * C57BL/6J	MGI:2673388
cx2	Pou3f2^tm1Tno/Pou3f2^tm1Tno Pou3f3^tm1Tno/Pou3f3^tm1Tno	involves: 129S4/SvJae * C57BL/6J	MGI:3795357

Genotype
MGI:2673388

hm1

• Allelic Composition: Pou3f3^tm1Tno/Pou3f3^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:84756 )

• mice died within 24 hours of birth due to renal failure

homeostasis/metabolism

increased blood urea nitrogen level ( J:84756 )

• significantly higher blood urea nitrogen level in the sera relative to wild-type or heterozygous mutant mice

increased circulating potassium level ( J:84756 )

• significantly higher potassium level in the sera relative to wild-type or heterozygous mutant mice

renal/urinary system

increased kidney apoptosis ( J:84756 )

• arrest of loop of Henle elongation associated with an increase in apoptosis

decreased kidney cell proliferation ( J:84756 )

• arrest of loop of Henle elongation associated with a decrease in cell proliferation

delayed kidney development ( J:84756 )

• arrest of loop of Henle elongation associated with an increase in apoptosis and decrease in cell proliferation

• tubules of neprhons did not extend into the medulla

• retarded development of the proximal convoluted tubule and macula densa

decreased kidney weight ( J:84756 )

• 20% reduction in weight relative to wild-type or heterozygous mutant mice

abnormal renal tubule morphology ( J:84756 )

• tubules of neprhons did not extend into the medulla

abnormal distal convoluted tubule morphology ( J:84756 )

• abnormal development of the distal convoluted tubule

• however, no significant difference in proximal tubule number relative to wild-type

truncated loop of Henle ( J:84756 )

• arrest of loop of Henle elongation

kidney failure ( J:84756 )

oliguria ( J:84756 )

• significantly lower urine volumes relative to wild-type or heterozygous mice

cellular

increased kidney apoptosis ( J:84756 )

• arrest of loop of Henle elongation associated with an increase in apoptosis

decreased kidney cell proliferation ( J:84756 )

• arrest of loop of Henle elongation associated with a decrease in cell proliferation

Genotype
MGI:3795357

cx2

• Allelic Composition: Pou3f2^tm1Tno/Pou3f2^tm1Tno; Pou3f3^tm1Tno/Pou3f3^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:77999 )

• expected number of double homozygotes are born, but all die within 1 hour of birth

nervous system

abnormal neuronal migration ( J:77999 )

• E14.5-born neurons occupy significantly altered positions relative to wild-type neurons; in wild-type these neurons are in layers V and VI, but in mutant cortex, the neurons remain in the intermediate zone

abnormal cortical ventricular zone morphology ( J:77999 )

• less cell proliferation is observed at E14.5 onward compared to wild-type

abnormal cerebellum development ( J:77999 )

abnormal cerebellar foliation ( J:77999 )

• less foliation observed at P0, with loosely packed Purkinje cells observed

enlarged lateral ventricles ( J:77999 )

abnormal cerebral cortex morphology ( J:77999 )

abnormal neocortex morphology ( J:77999 )

• severely affected, with marked reduction in thickness at P0

• cortical neurons have altered positioning in neocortex

abnormal stratification in cerebral cortex ( J:77999 )

• stratification of cortical neurons appears disorganized at P0

loss of cortex neurons ( J:77999 )

• upper-layer neurons are lost in mutants in late development

abnormal olfactory bulb morphology ( J:77999 )

• bulb exhibits hypoplasia

abnormal embryonic/fetal subventricular zone morphology ( J:77999 )

• reduction in proliferating cells is most severe in cortical subventricular zone (only 16.5% of wild-type cell proliferation)

cellular

abnormal neuronal migration ( J:77999 )

• E14.5-born neurons occupy significantly altered positions relative to wild-type neurons; in wild-type these neurons are in layers V and VI, but in mutant cortex, the neurons remain in the intermediate zone