Phenotypes associated with this allele

• Allele Symbol: Fkbp8^tm1Tili
• Allele Name: targeted mutation 1, Tiansen Li
• Allele ID: MGI:3042750
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fkbp8^tm1Tili/Fkbp8^tm1Tili	involves: C57BL/6	MGI:3042777
hm2	Fkbp8^tm1Tili/Fkbp8^tm1Tili	Not Specified	MGI:3819789
cx3	Fkbp8^tm1Tili/Fkbp8^tm1Tili Shh^tm1Chg/Shh^tm1Chg	involves: C57BL/6	MGI:3042780

Genotype
MGI:3042777

hm1

• Allelic Composition: Fkbp8^tm1Tili/Fkbp8^tm1Tili
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:89364 )

• homozygous mutants die around E13.5

embryo

abnormal dorsal-ventral axis patterning ( J:89364 )

• at E10.5 cells throughout the ventral neural tube resemble floor-plate cells in homozygous mutants

• from E9.5 to E12.5 there is a general ventralization of neural cell fates in cells posterior to the prospective spinal cord

abnormal neural tube morphology ( J:89364 )

• by E10.5 the caudal neural tube appears translucent and irregular

• by E12.5 the caudal neural tube is dilated and appears as a fluid-filled sac

vision/eye

microphthalmia ( J:89364 )

• in about 80% of homozygotes the eyes are smaller compared to wild-type littermates

• by E11.5 development of the retina and pigmented epithelium is severely reduced in the ventral half of the eye

anophthalmia ( J:89364 )

• in about 20% of homozygotes a clump of pigmented cells is seen in place of the eyes

nervous system

abnormal neural tube morphology ( J:89364 )

• by E10.5 the caudal neural tube appears translucent and irregular

• by E12.5 the caudal neural tube is dilated and appears as a fluid-filled sac

small dorsal root ganglion ( J:89364 )

• by E12.5 the dorsal root ganglia is dorsally displaced and smaller than normal in homozygous mutants

Genotype
MGI:3819789

hm2

• Allelic Composition: Fkbp8^tm1Tili/Fkbp8^tm1Tili
• Genetic Background: Not Specified

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:132961 )

• mice die at E13.5

Genotype
MGI:3042780

cx3

• Allelic Composition: Fkbp8^tm1Tili/Fkbp8^tm1Tili; Shh^tm1Chg/Shh^tm1Chg
• Genetic Background: involves: C57BL/6

embryo

abnormal dorsal-ventral axis patterning ( J:89364 )

• there is a general ventralization of neural cell fates in cells posterior to the prospective spinal cord similar to that seen in Fkbp8^tm1Tili homozygotes

abnormal neural tube morphology ( J:89364 )

• at E12.5 double homozygotes have dilated caudal neural tubes similar to Fkbp8^tm1Tili homozygotes

absent notochord ( J:89364 )

abnormal somite shape ( J:89364 )

• by E12.5 the somites in double homozygotes are abnormally shaped similar to Shh^tm1Chg homozygotes

decreased somite size ( J:89364 )

• by E12.5 the somites in double homozygotes are small similar to Shh^tm1Chg homozygotes

limbs/digits/tail

abnormal limb morphology ( J:89364 )

• by E12.5 the limbs fail to grow out along the proximodistal axis similar to Shh^tm1Chg homozygotes

vision/eye

microphthalmia ( J:89364 )

• double homozygotes are rescued from cyclopia seen in Shh^tm1Chg homozygotes

nervous system

abnormal neural tube morphology ( J:89364 )

• at E12.5 double homozygotes have dilated caudal neural tubes similar to Fkbp8^tm1Tili homozygotes