All Phenotypes Tulp3<hhkr> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tulp3^hhkr/Tulp3^hhkr	involves: C3H/HeH * C57BL/6	MGI:3842138
ht2	Tulp3^hhkr/Tulp3⁺	involves: C3H/HeH * C57BL/6	MGI:3842139
ht3	Tulp3^hhkr/Tulp3^tm1Jng	involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6	MGI:3842140
cx4	Shh^tm1Chg/Shh^tm1Chg Tulp3^hhkr/Tulp3^hhkr	involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6	MGI:3842141
cx5	Smo^tm1Amc/Smo^tm1Amc Tulp3^hhkr/Tulp3^hhkr	involves: 129X1/SvJ * C3H/HeH * C57BL/6	MGI:3842142
cx6	Gli3^Xt-J/Gli3^Xt-J Tulp3^hhkr/Tulp3^hhkr	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842143
cx7	Gli3^Xt-J/Gli3⁺ Tulp3^hhkr/Tulp3⁺	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842144
cx8	Gli3^Xt-J/Gli3⁺ Tulp3^hhkr/Tulp3^hhkr	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842145
cx9	Gli3^Xt-J/Gli3^Xt-J Tulp3^hhkr/Tulp3⁺	involves: C3H/HeH * C3H/HeJ * C57BL/6	MGI:3842146

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

nervous system

abnormal nervous system development ( J:147584 )

• mice exhibit widely splayed neural folds unlike wild-type mice

abnormal neural tube morphology ( J:147584 )

• the lumen of the lower spinal neural tube is expanded, particularly in the ventral half of the spinal cord, compared to in wild-type mice

• unlike in wild-type mice, some mice exhibit closed thoracolumbar neural tube that is not enclosed within the bony vertebral column

• mice exhibit a reduction in dorso-lateral bending with small dorso-lateral hinge in the sections immediately adjacent to the closed neural tube and straight neural folds are observed more caudally unlike in wild-type mice

• however, cell proliferation and apoptosis in the neuroepithelium is normal at E9.5

• expression of neural tube markers is ventralized compared to in wild-type mice

decreased embryonic neuroepithelium thickness ( J:147584 )

• reduced thickness

incomplete rostral neuropore closure ( J:147584 )

• at the 24 to 27 somite stage, 22% of mice fail to close at the forebrain-midbrain boundary unlike in wild-type mice

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta

spina bifida occulta ( J:147584 )

• in 8% of mice

abnormal caudal neuropore morphology ( J:147584 )

• from the 17-somite stage, posterior neuropores are enlarged compared to in wild-type mice

incomplete caudal neuropore closure ( J:147584 )

• at the 27-somite stage, 72% of mice exhibit open posterior neuropores compared to 25% of wild-type mice

exencephaly ( J:147584 )

• in 37% of mice

limbs/digits/tail

abnormal digit morphology ( J:147584 )

• some digits are bifurcation or duplication of digit one, or full or partial duplication of another digit unlike in wild-type mice

clinodactyly ( J:147584 )

• the first digit is bent backwards unlike in wild-type mice

polydactyly ( J:147584 )

• often mice exhibit preaxial polydactyly on fore and hind limbs with 6 or 7 digits unlike in wild-type mice

• 68% of mice exhibit polydactyly

skeleton

rib bifurcation ( J:147584 )

• at E18.5 in some mice

abnormal vertebrae development ( J:147584 )

• at E15.5, mice exhibit widely spaced cartilage primordial of the developing vertebrae unlike in wild-type mice

• at E18.5, vertebrae in the thoracolumbar region are splayed in some mice unlike in wild-type mice

spina bifida occulta ( J:147584 )

• in 8% of mice

homeostasis/metabolism

edema ( J:147584 )

• mice exhibit edema in the tissues surrounding the lower spinal neural tube unlike wild-type mice

• 58% of mice exhibit edema

embryo

abnormal neural tube morphology ( J:147584 )

• the lumen of the lower spinal neural tube is expanded, particularly in the ventral half of the spinal cord, compared to in wild-type mice

• unlike in wild-type mice, some mice exhibit closed thoracolumbar neural tube that is not enclosed within the bony vertebral column

• however, cell proliferation and apoptosis in the neuroepithelium is normal at E9.5

• expression of neural tube markers is ventralized compared to in wild-type mice

decreased embryonic neuroepithelium thickness ( J:147584 )

• reduced thickness

incomplete rostral neuropore closure ( J:147584 )

• at the 24 to 27 somite stage, 22% of mice fail to close at the forebrain-midbrain boundary unlike in wild-type mice

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta

spina bifida occulta ( J:147584 )

• in 8% of mice

abnormal caudal neuropore morphology ( J:147584 )

• from the 17-somite stage, posterior neuropores are enlarged compared to in wild-type mice

incomplete caudal neuropore closure ( J:147584 )

• at the 27-somite stage, 72% of mice exhibit open posterior neuropores compared to 25% of wild-type mice

growth/size/body

spina bifida cystica ( J:147584 )

• 65% of mice exhibit lumbosacral spina bifida aperta

Allelic Composition	Tulp3^hhkr/Tulp3⁺
Genetic Background	involves: C3H/HeH * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tulp3^hhkr mutation (1 available); any Tulp3 mutation (54 available)

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

growth/size/body

abnormal head morphology ( J:147584 )

• 6% of mice exhibit mild head misshaping or slight caudal edema

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tulp3^hhkr mutation (1 available); any Tulp3 mutation (54 available)
Tulp3^tm1Jng mutation (2 available); any Tulp3 mutation (54 available)

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

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

Allelic Composition	Shh^tm1Chg/Shh^tm1Chg Tulp3^hhkr/Tulp3^hhkr
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shh^tm1Chg mutation (2 available); any Shh mutation (48 available)
Tulp3^hhkr mutation (1 available); any Tulp3 mutation (54 available)

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

nervous system

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

spina bifida ( J:147584 )

exencephaly ( J:147584 )

limbs/digits/tail

oligodactyly ( J:147584 )

• mice exhibit two digits on fore limbs and four digits on the hind limbs unlike in wild-type mice

homeostasis/metabolism

edema ( J:147584 )

embryo

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

spina bifida ( J:147584 )

Allelic Composition	Smo^tm1Amc/Smo^tm1Amc Tulp3^hhkr/Tulp3^hhkr
Genetic Background	involves: 129X1/SvJ * C3H/HeH * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smo^tm1Amc mutation (1 available); any Smo mutation (39 available)
Tulp3^hhkr mutation (1 available); any Tulp3 mutation (54 available)

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

nervous system

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

increased spinal cord size ( J:147584 )

• mice exhibit an expansion of the caudal spinal cord unlike in wild-type mice

cardiovascular system

pericardial edema ( J:147584 )

homeostasis/metabolism

pericardial edema ( J:147584 )

embryo

abnormal neural tube morphology ( J:147584 )

• expression of neural tube markers is ventralized compared to in wild-type mice

Allelic Composition	Gli3^Xt-J/Gli3^Xt-J Tulp3^hhkr/Tulp3^hhkr
Genetic Background	involves: C3H/HeH * C3H/HeJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gli3^Xt-J mutation (3 available); any Gli3 mutation (81 available)
Tulp3^hhkr mutation (1 available); any Tulp3 mutation (54 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:147584 )

• mice do not survive to E15.5

Allelic Composition	Gli3^Xt-J/Gli3⁺ Tulp3^hhkr/Tulp3⁺
Genetic Background	involves: C3H/HeH * C3H/HeJ * C57BL/6

Find Mice

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

limbs/digits/tail

polydactyly ( J:147584 )

• mice exhibit a single extra digit on most limbs

Allelic Composition	Gli3^Xt-J/Gli3⁺ Tulp3^hhkr/Tulp3^hhkr
Genetic Background	involves: C3H/HeH * C3H/HeJ * C57BL/6

Find Mice

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

limbs/digits/tail

polydactyly ( J:147584 )

• mice exhibit more severe polydactyly than in Tulp3^hhkr homozygotes with seven or eight digits

Allelic Composition	Gli3^Xt-J/Gli3^Xt-J Tulp3^hhkr/Tulp3⁺
Genetic Background	involves: C3H/HeH * C3H/HeJ * C57BL/6

Find Mice

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

limbs/digits/tail

polysyndactyly ( J:147584 )

• with seven to nine digits

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