Phenotypes associated with this allele

• Allele Symbol: Pax1^tm1Neu
• Allele Name: targeted mutation 1, Neuherberg
• Allele ID: MGI:1857560
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax1^tm1Neu/Pax1^tm1Neu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3845243
ht2	Pax1^tm1Neu/Pax1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3845244

Genotype
MGI:3845243

hm1

• Allelic Composition: Pax1^tm1Neu/Pax1^tm1Neu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

skeleton

abnormal scapula morphology ( J:49339 )

absent acromion ( J:49339 )

• the acromion process and a part of the spine are not formed unlike in wild-type mice

abnormal sternum morphology ( J:49339 )

sternebra fusion ( J:49339 )

• sternebrae 4 and 5, and sometimes 3, are fused unlike in wild-type mice

abnormal rib joint morphology ( J:49339 )

• the rib heads of T11 to T13 are ossified and fused to the pedicles unlike in wild-type mice

• only a restricted area next to the rib attachment site is chondrified

• however, a floating thirteenth rib is frequently observed

abnormal vertebral column morphology ( J:49339 )

abnormal caudal vertebrae morphology ( J:49339 )

• caudal segments in the tail are not ossified with triangular shapes due to a reduction in the posterior halves of the vertebrae

abnormal thoracic vertebrae morphology ( J:49339 )

• lower thoracic vertebrae exhibit abnormal shape due to pronounced fusion of the pedicles across the ventral midlines unlike in wild-type mice

• ossification centers from T5 caudally are fused to the pedicles

absent intervertebral disk ( J:49339 )

scoliosis ( J:49339 )

abnormal cervical vertebrae morphology ( J:49339 )

• C5 and C6 lack ossification centers

abnormal cervical atlas morphology ( J:49339 )

• the space between the first cervical vertebra and the second is lacking

abnormal ventral tubercle of atlas morphology ( J:49339 )

• the ventral tubercle is enlarged

abnormal cervical axis morphology ( J:49339 )

• the pedicles of C2 extend ventro-medially

fusion of atlas and odontoid process ( J:49339 )

• the odontoid process and arcus anterior atlantis are fused by ventral cartilaginous and ossified bridges

abnormal lumbar vertebrae morphology ( J:49339 )

• lumbar vertebrae exhibit abnormal shape due to pronounced fusion of the pedicles across the ventral midlines unlike in wild-type mice

• L3, L4, and L5 exhibit a saggital split unlike in wild-type mice

• the ossification centers, costal processes, and anaphophyses of lumbar vertebrae are absent

abnormal vertebral body morphology ( J:49339 )

• the ossification centers in cervical region vertebral bodies is reduced or has not formed compared to in wild-type mice

• the ossification centers in the thoracic region are fused o the pedicles as they extend ventro-medially starting at T5 unlike in wild-type mice

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:49339 )

• caudal segments in the tail are not ossified with triangular shapes due to a reduction in the posterior halves of the vertebrae

kinked tail ( J:49339 )

Genotype
MGI:3845244

ht2

• Allelic Composition: Pax1^tm1Neu/Pax1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

skeleton

abnormal sternum morphology ( J:49339 )

• 88% of mice exhibit abnormalities in the first two cervical vertebrae, in the lumbar region, and/or the sternum

• 34% of mice exhibit ossification of intersternebra 5

abnormal vertebrae morphology ( J:49339 )

• 88% of mice exhibit abnormalities in the first two cervical vertebrae, in the lumbar region, and/or the sternum

abnormal cervical atlas morphology ( J:49339 )

• 63% of mice exhibit ventral fusion of the axis to the arcus of the atlas by cartilaginous bridge

abnormal ventral tubercle of atlas morphology ( J:49339 )

• the ventral tubercle of the arcus is enlarged

abnormal lumbar vertebrae morphology ( J:49339 )

• 44% of mice exhibit abnormalities in the lumbar region

• in most cases, L4 displays dual ossification centers unlike in wild-type mice

• in 3 of 32 mice, the pedicles fuse to one of the twin ossification centers and costal processes of the affected vertebrae are missing unlike in wild-type mice