Phenotypes associated with this allele

• Allele Symbol: Pax1^tm2Neu
• Allele Name: targeted mutation 2, Neuherberg
• Allele ID: MGI:1857741
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax1^tm2Neu/Pax1^tm2Neu	involves: 129S1/Sv * C57BL/6	MGI:3845207
cx2	Foxc2^tm1Miu/Foxc2^tm1Miu Pax1^tm2Neu/Pax1^tm2Neu	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6	MGI:2169357

Genotype
MGI:3845207

hm1

• Allelic Composition: Pax1^tm2Neu/Pax1^tm2Neu
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

skeleton

abnormal skeleton morphology ( J:55575 )

• mice exhibit similar skeletal defects as those observed in Pax1^un-ex homozygotes

abnormal rib morphology ( J:55575 )

• the proximal region of the thirteenth rib is lacking unlike in wild-type mice

abnormal vertebral body morphology ( J:55575 )

• ossification centers in the vertebral bodies of the cervical region are absent and split in the thoracic, lumbar, and sacral regions compared to in wild-type mice

• the annuli fibrosi is not normally generated

small vertebral body ( J:55575 )

Genotype
MGI:2169357

cx2

• Allelic Composition: Foxc2^tm1Miu/Foxc2^tm1Miu; Pax1^tm2Neu/Pax1^tm2Neu
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:55575 )

• half as many mice as expected are present at E19

skeleton

meningomyelocele ( J:55575 )

• at E18.5, mice exhibit subcutaneous myelomeningocoele unlike in wild-type mice

abnormal costovertebral joint morphology ( J:55575 )

• ribs fail to articulate with the vertebral bodies unlike in wild-type mice

rib fusion ( J:55575 )

• mice occasionally exhibit fusion of the proximal parts of the ribs unlike in wild-type mice

absent intervertebral disk ( J:55575 )

abnormal vertebrae development ( J:55575 )

• the cartilaginous primordial of ventral and dorsal structures of vertebra are not generated

• subdermal connective tissue is expanded but no brown adipose tissue is apparent compared to in wild-type mice

• the connective tissue in the cervical region that surrounds the back musculature fails to fuse at the dorsal midline and the medial portions of the back musculature does not form normally

abnormal vertebral lamina morphology ( J:55575 )

• the laminae of the neural arches are completely lost

abnormal vertebral pedicle morphology ( J:55575 )

• fused

abnormal vertebral body morphology ( J:55575 )

• at E15.5, vertebral bodies are poorly developed and occasionally split unlike in wild-type mice

• the annuli fibrosi is not normally generated at all axial levels

vertebral fusion ( J:55575 )

• mice exhibit a fusion of deformed vertebrae in the cervical, thoracic, and lumbar regions

fusion of atlas and odontoid process ( J:55575 )

• the odontoid process is fused to the atlas but not C2

short vertebral column ( J:55575 )

• the vertebral column is shorter compared to in either single homozygote

• ventral and dorsal structures are lacking or strongly reduced compared to in wild-type mice

abnormal sclerotome morphology ( J:55575 )

• at E9.5 and E11.5, expansion of the sclerotome is impaired due to reduction in mitotic cells in the ventrolateral region of the sclerotome

nervous system

abnormal neural tube morphology ( J:55575 )

• the neural tube is deformed by dorsoventral compression

meningomyelocele ( J:55575 )

• at E18.5, mice exhibit subcutaneous myelomeningocoele unlike in wild-type mice

spina bifida ( J:55575 )

abnormal subarachnoid space development ( J:55575 )

• the presumptive subarachnoid space in the lumbar region is narrower than in single homozygotes and the neural tissue extrudes dorsally

abnormal dorsal root ganglion morphology ( J:55575 )

• shifted dorsally

muscle

abnormal muscle development ( J:55575 )

• the connective tissue in the cervical region that surrounds the back musculature fails to fuse at the dorsal midline and the medial portions of the back musculature does not form normally

abnormal dermomyotome development ( J:55575 )

• the dorsal tips of the dermomyotome are shifted dorsally compared to in wild-type mice

cardiovascular system

abnormal dorsal aorta morphology ( J:55575 )

• the anlagen of the dorsal aorta is shifted dorsally compared to in wild-type mice

growth/size/body

decreased body length ( J:55575 )

• at E18.5, the craniocaudal length of mice is two-thirds of wild-type with strong shortening of the caudal region

embryo

abnormal neural tube morphology ( J:55575 )

• the neural tube is deformed by dorsoventral compression

meningomyelocele ( J:55575 )

• at E18.5, mice exhibit subcutaneous myelomeningocoele unlike in wild-type mice

spina bifida ( J:55575 )