Phenotypes associated with this allele

• Allele Symbol: Ednrb^{tm3(tetO)Tilg}
• Allele Name: targeted mutation 3, Shirley M Tilghman
• Allele ID: MGI:3623112
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ednrb^tm2(rtTA)Tilg/Ednrb^tm3(tetO)Tilg	involves: 129P2/OlaHsd * 129S1/Sv	MGI:3624014
ht2	Ednrb^tm1(tTA)Tilg/Ednrb^tm3(tetO)Tilg	involves: 129P2/OlaHsd * 129S1/Sv	MGI:3624015

Genotype
MGI:3624014

ht1

• Allelic Composition: Ednrb^{tm2(rtTA)Tilg}/Ednrb^{tm3(tetO)Tilg}
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv

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

mortality/aging

premature death ( J:58698 )

• two neonates that developed without dox being given to the mothers eventually die of megacolon

• all compound heterozygotes born to females given dox at E11.5 die of megacolon within 4 weeks of birth

digestive/alimentary system

digestive/alimentary phenotype ( J:58698 )

N • when doxycycline (dox) containing water is provided to females for the entire pregnancy (thus resulting in the expression of Ednrb throughout development), compound heterozygous offspring exhibit no enteric neuron defects

N • if dox is administered to pregnant mothers at or before E9.5, all compound heterozygous offspring are phenotypically normal

N • some compound heterozygotes born to females given dox at E10.5 exhibit no melanocyte or enteric ganglia defects

megacolon ( J:58698 )

• two neonates that developed without dox (no expression of Ednrb) being given to the mothers eventually die of megacolon

• some compound heterozygotes born to females given dox at E10.5, have an unpigmented head and megacolon

• all compound heterozygotes born to females given dox at E11.5 die of megacolon within 4 weeks of birth

pigmentation

pigmentation phenotype ( J:58698 )

N • when dox-containing water is provided to females for the entire pregnancy or is administered at or before E9.5, compound heterozygous offspring exhibit no melanocyte defects

N • some compound heterozygotes born to females given dox at E10.5 exhibit no melanocyte of enteric ganglia defects

absent coat pigmentation ( J:58698 )

• two neonates that developed without dox being given to the mothers are almost completely white

• some compound heterozygotes born to females given dox at E10.5 exhibit unpigmented portions of the head but no megacolon, and others have an unpigmented head and megacolon

• some compound heterozygotes born to females given dox at E11.5 are amelanocytic, exhibiting the null piebald-lethal phenotype, and others are pigmented in the caudal one- to two-thirds of the body

• all compound heterozygotes born to females given dox at E12.5 or later, exhibit the piebald-lethal phenotype

nervous system

abnormal enteric neuron morphology ( J:58698 )

• compound heterozygotes born to females given dox at E11.5 exhibit no neuroblasts beyond the coecum

integument

absent coat pigmentation ( J:58698 )

• two neonates that developed without dox being given to the mothers are almost completely white

• some compound heterozygotes born to females given dox at E10.5 exhibit unpigmented portions of the head but no megacolon, and others have an unpigmented head and megacolon

• some compound heterozygotes born to females given dox at E11.5 are amelanocytic, exhibiting the null piebald-lethal phenotype, and others are pigmented in the caudal one- to two-thirds of the body

• all compound heterozygotes born to females given dox at E12.5 or later, exhibit the piebald-lethal phenotype

Genotype
MGI:3624015

ht2

• Allelic Composition: Ednrb^tm1(tTA)Tilg/Ednrb^{tm3(tetO)Tilg}
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv

pigmentation

pigmentation phenotype ( J:58698 )

N • compound heterozygous mice that develop in the absence of doxycycline (dox) (Ednrb is expressed) are fully pigmented and viable

N • all, but one, compound heterozygotes born to females given dox (Ednrb expression is repressed) after E12.5 or E13.5 are normal and do not develop megacolon

absent coat pigmentation ( J:58698 )

• compound heterozygous mice that develop in the presence of dox throughout pregnancy (no expression of Ednrb) display a piebald-lethal phenotype

• all compound heterozygotes born to mothers given dox at E10.5, display the full piebald-lethal phenotype

• about 50% of compound heterozygotes born to females given dox after E11.5 are piebald-lethal, with the rest pigmented in the rostral one- to two-thirds of the body and develop megacolon

digestive/alimentary system

digestive/alimentary phenotype ( J:58698 )

N • all, but one, compound heterozygotes born to females given dox (no expression of Ednrb) after E12.5 or E13.5 are normal and do not develop megacolon

megacolon ( J:58698 )

• about 50% of compound heterozygotes born to females given dox at E11.5 develop megacolon

nervous system

abnormal enteric neuron morphology ( J:58698 )

• compound heterozygotes born to females given dox between E11.5 and E12.5 exhibit no neuroblasts beyond the coecum

integument

absent coat pigmentation ( J:58698 )

• compound heterozygous mice that develop in the presence of dox throughout pregnancy (no expression of Ednrb) display a piebald-lethal phenotype

• all compound heterozygotes born to mothers given dox at E10.5, display the full piebald-lethal phenotype

• about 50% of compound heterozygotes born to females given dox after E11.5 are piebald-lethal, with the rest pigmented in the rostral one- to two-thirds of the body and develop megacolon