Phenotypes associated with this allele

• Allele Symbol: Tulp3^tm1Jng
• Allele Name: targeted mutation 1, Jurgen Naggert
• Allele ID: MGI:2388066
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tulp3^tm1Jng/Tulp3^tm1Jng	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2654882
ht2	Tulp3^tm1Jng/Tulp3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2654883
ht3	Tulp3^hhkr/Tulp3^tm1Jng	involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6	MGI:3842140

Genotype
MGI:2654882

hm1

• Allelic Composition: Tulp3^tm1Jng/Tulp3^tm1Jng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:70060 )

• homozygous mutant embryos die by E14.5

nervous system

intracranial hemorrhage ( J:70060 )

• at E10.5, homozygous mutant embryos show hemorrhage into the telencephalic vesicles

increased embryonic neuroepithelium apoptosis ( J:70060 )

• at E8.5 and E9.5, homozygous mutant embryos show a 7-fold increase in apoptotic cell death in the ventral half of the neuroepithelium of the hindbrain, as shown by TUNEL assays

abnormal neural tube morphology ( J:70060 )

• starting at E9.5, homozygotes display neural tube defects (NTDs), with both the anterior midbrain and the hindbrain being open

• at E10.5, ~63% of homozygous mutant embryos show NTDs

open neural tube ( J:70060 )

• at E9.5, homozygous mutant embryos display an open and everted neural tube

spina bifida ( J:70060 )

• at E12.5 and E13.5, 37% of homozygous mutant embryos display spina bifida in the posterior neuropore (caudal zone)

abnormal hindbrain development ( J:70060 )

• at E9.5, the mutant hindbrain fails to elevate and forms a convex configuration instead of the V-shaped neural tube observed in wild-type embryos

abnormal midbrain morphology ( J:70060 )

• at E9.5, the rostral midbrain appears morphologically abnormal

abnormal hindbrain morphology ( J:70060 )

• at E9.5, the hindbrain neuroepithelium is not fused and the hindbrain appears morphologically abnormal

exencephaly ( J:70060 )

• at E12.5, 77% of homozygous mutant embryos display exencephaly resulting from NTDs, while the remaining embryos dot not exhibit NTDs

abnormal neuron specification ( J:70060 )

• at E9.5 and E10.5, the number of betaIII-tubulin positive cells is significantly reduced in the hindbrain of mutant embryos

abnormal dorsal root ganglion morphology ( J:70060 )

• at E12.5 and E13.5, mutant dorsal root ganglia are irregular in size and shape, and are sometimes not segmented

• however, no obvious somite patterning defect is detected

craniofacial

abnormal craniofacial development ( J:70060 )

• at E11.5-E12.5, all homozygous mutant embryos show abnormal craniofacial development, partly due to increased cell death in the neuroepithelium of the hindbrain

facial cleft ( J:70060 )

• at E12.5, mutant nasal prominencesare not completely merged with each other and to the maxillary prominences

cardiovascular system

internal hemorrhage ( J:70060 )

• at E10.5 to E13.5, homozygous mutant embryos display hemorrhagic sites in the brain and along the caudal neural tube

• however, vascular formation remains unaffected at E10.5

intracranial hemorrhage ( J:70060 )

• at E10.5, homozygous mutant embryos show hemorrhage into the telencephalic vesicles

hematopoietic system

anemia ( J:70060 )

• at E14.5, all homozygous mutant embryos lack circulating red blood cells

skeleton

abnormal vertebrae morphology ( J:70060 )

• at E12.5 and E13.5, mutant vertebrae display a disorganized structure

cellular

increased apoptosis ( J:70060 )

• at E8.5 and E9.5, homozygous mutant embryos show a 7-fold increase in apoptotic cell death in the ventral half of the neuroepithelium of the hindbrain and in the caudal neural tube, as shown by TUNEL assays

increased embryonic neuroepithelium apoptosis ( J:70060 )

• at E8.5 and E9.5, homozygous mutant embryos show a 7-fold increase in apoptotic cell death in the ventral half of the neuroepithelium of the hindbrain, as shown by TUNEL assays

embryo

abnormal neural tube morphology ( J:70060 )

• starting at E9.5, homozygotes display neural tube defects (NTDs), with both the anterior midbrain and the hindbrain being open

• at E10.5, ~63% of homozygous mutant embryos show NTDs

open neural tube ( J:70060 )

• at E9.5, homozygous mutant embryos display an open and everted neural tube

spina bifida ( J:70060 )

• at E12.5 and E13.5, 37% of homozygous mutant embryos display spina bifida in the posterior neuropore (caudal zone)

integument

pallor ( J:70060 )

• at E14.5, all homozygous mutant embryos are pale

growth/size/body

facial cleft ( J:70060 )

• at E12.5, mutant nasal prominencesare not completely merged with each other and to the maxillary prominences

Genotype
MGI:2654883

ht2

• Allelic Composition: Tulp3^tm1Jng/Tulp3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

embryonic lethality, incomplete penetrance ( J:70060 )

• affected heterozygous mutant embryos exhibit embryonic lethality with excessive neuroepithelial apoptosis in the hindbrain

• however, no overt abnormalities are detected in live-born heterozygous mutant mice

nervous system

increased embryonic neuroepithelium apoptosis ( J:70060 )

• at E10.5, affected heterozygous mutant embryos display excessive apoptosis of neuroepithelial cells in the hindbrain region

open neural tube ( J:70060 )

• at E10.5, a few heterozygotes exhibit an open neural tube

abnormal brain morphology ( J:70060 )

• at E10.5, 18% of heterozygous mutant embryos display an abnormal brain phenotype that is less severe than that observed in homozygous mutant embryos

abnormal brain development ( J:70060 )

• at E10.5, the majority of affected heterozygous mutant embryos display abnormal fore-, mid- and hindbrain development

abnormal midbrain morphology ( J:70060 )

• at E10.5, affected heterozygotes exhibit an underdeveloped and disorganized midbrain

abnormal forebrain morphology ( J:70060 )

• at E10.5, affected heterozygotes exhibit an underdeveloped and disorganized forebrain

forebrain hypoplasia ( J:70060 )

abnormal hindbrain morphology ( J:70060 )

• at E10.5, affected heterozygotes exhibit an underdeveloped and disorganized hindbrain with a collapsed roof

cardiovascular system

hemorrhage ( J:70060 )

• some heterozygous mutant embryos display sites of hemorrhage at E12.5 and blood loss at E14.5

embryo

open neural tube ( J:70060 )

• at E10.5, a few heterozygotes exhibit an open neural tube

cellular

increased embryonic neuroepithelium apoptosis ( J:70060 )

• at E10.5, affected heterozygous mutant embryos display excessive apoptosis of neuroepithelial cells in the hindbrain region

Genotype
MGI:3842140

ht3

• Allelic Composition: Tulp3^hhkr/Tulp3^tm1Jng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6

nervous system

spina bifida ( J:147584 )

• at E12.5, mice exhibit the same defects observed in single homozygotes

exencephaly ( J:147584 )

• at E12.5, mice exhibit the same defects observed in single homozygotes

vision/eye

abnormal eye development ( J:147584 )

homeostasis/metabolism

edema ( J:147584 )

• at E12.5

embryo

spina bifida ( J:147584 )

• at E12.5, mice exhibit the same defects observed in single homozygotes