Phenotypes associated with this allele

• Allele Symbol: Rela^tm1.1Gho
• Allele Name: targeted mutation 1.1, Sankar Ghosh
• Allele ID: MGI:3794987
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rela^tm1.1Gho/Rela^tm1.1Gho	involves: 129S6/SvEvTac * C57BL/6	MGI:3794989
cx2	Rela^tm1.1Gho/Rela^tm1.1Gho Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6	MGI:3794990

Genotype
MGI:3794989

hm1

• Allelic Composition: Rela^tm1.1Gho/Rela^tm1.1Gho
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

embryonic lethality, incomplete penetrance ( J:134684 )

• most homozygous mice died in utero between 11 and 16 days post-coitum

• most homozygous embryos are normal until 11 days post-coitum, but homozygous embryos recovered after 11dpc exhibited a variety of phenotypes that ranged from normal-looking embryos to embryos that were nearly resorbed at 13.5 dpc

limbs/digits/tail

abnormal limb morphology ( J:134684 )

• some homozygous mice that developed to between 14 and 16 dpc show multiple developmental defects, variable in severity, including deformed limbs

vision/eye

abnormal eye development ( J:134684 )

• a frequently recurring, but variable, abnormal eye development

• rudimentary eyes from homozygous embryos shows formation of the early eye structures, but developmental arrest at various stages

microphthalmia ( J:134684 )

• either bilateral or unilateral with or without anophthalmia

anophthalmia ( J:134684 )

• either bilateral or unilateral with or without microphthalmia

Genotype
MGI:3794990

cx2

• Allelic Composition: Rela^tm1.1Gho/Rela^tm1.1Gho; Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6

mortality/aging

premature death ( J:134684 )

• a few mice survived to birth died about 1 month after birth

prenatal lethality, incomplete penetrance ( J:134684 )

• most homozygous mice died in utero before birth

• very small number of mutant mice survived to birth

vision/eye

abnormal eye development ( J:134684 )

• a few mice survived to birth show eye developmental defect and were blind

blindness ( J:134684 )

• a few mice survived to birth show eye developmental defect and were blind