Phenotypes associated with this allele

• Allele Symbol: Pax1^un-ex
• Allele Name: undulated extensive
• Allele ID: MGI:1856223
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax1^un-ex/Pax1^un-ex	B6.Cg-Pax1^un-ex	MGI:3829228
hm2	Pax1^un-ex/Pax1^un-ex	Not Specified	MGI:3829239
cx3	Lasp1^Tg(Col1a1-lacZ)1Ngma/Lasp1^Tg(Col1a1-lacZ)1Ngma Pax1^un-ex/Pax1^un-ex	involves: C57BL/6	MGI:4366488

Genotype
MGI:3829228

hm1

• Allelic Composition: Pax1^un-ex/Pax1^un-ex
• Genetic Background: B6.Cg-Pax1^un-ex

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

skeleton

abnormal craniofacial bone morphology ( J:15087 )

• not seen in all mice

abnormal jaw morphology ( J:15087 )

• not seen in all mice

abnormal rib joint morphology ( J:49339 )

• the thirteenth rib is not connected to its respective vertebra, and the rib heads of the twelfth rib pair, the single right rib 13, and the single left rib 11 are ossified

abnormal vertebral column morphology ( J:15087 )

abnormal thoracic vertebrae morphology ( J:49339 )

• the ossification centers at T5 and all caudally following segments are fused to the pedicles

abnormal cervical vertebrae morphology ( J:49339 )

• the ossification center at C5 is missing and reduced in C6 and C7

abnormal lumbar vertebrae morphology ( J:49339 )

• vertebrae from L2 to L4 are saggitally split

craniofacial

abnormal craniofacial bone morphology ( J:15087 )

• not seen in all mice

abnormal jaw morphology ( J:15087 )

• not seen in all mice

limbs/digits/tail

syndactyly ( J:15087 )

polysyndactyly ( J:15087 )

• not seen in all mice

abnormal tail morphology ( J:15087 )

Genotype
MGI:3829239

hm2

• Allelic Composition: Pax1^un-ex/Pax1^un-ex
• Genetic Background: Not Specified

skeleton

abnormal vertebral column morphology ( J:23331 )

• aberrations are found as early as E12.5

abnormal costovertebral joint morphology ( J:23331 )

• in newborns ribs of the lowermost thoracic region may be siffly connected or entirely unconnected to corresponding vertebrae

absent intervertebral disk ( J:23331 )

• missing in the lower thoracic, lumbar, and sacral regions in newborns

scoliosis ( J:153789 )

abnormal vertebrae morphology ( J:23331 )

• in newborns vertebrae of the lower thoracic, lumbar, and sacral regions lack centers but are ventrally closesd due to fusion of pedicles

abnormal thoracic vertebrae morphology ( J:23331 )

• in newborns mildly affected vertebrae are restricted to the upper thoracic region

• in newborns lower throacic vertebrae lack centers and are ventrally closed due to pedicle fusion

abnormal lumbar vertebrae morphology ( J:23331 )

• pedicles may be ventrally connected to irregularly shaped and neighboring cartilaginous structures

split vertebrae ( J:23331 )

• aberrations are found as early as E12.5

vertebral compression ( J:23331 , J:153789 )

• aberrations are found as early as E12.5 (J:23331)

• vertebral bodies are reduced in anteroposterior and dorsoventral positions in newborn mice (J:23331)

• slightly (J:153789)

abnormal vertebral pedicle morphology ( J:23331 )

• in the lumbar region pedicles may fail to fuse and be connected ventrally to irregularly shaped cartilage

absent vertebral transverse processes ( J:23331 )

• in newborn mice vertebral transverse processes in the lumbar region are reduced or absent

absent vertebral body ( J:23331 )

• missing in lumbar region vertebrae

limbs/digits/tail

abnormal tail morphology ( J:153789 )

• bent

Genotype
MGI:4366488

cx3

• Allelic Composition: Lasp1^{Tg(Col1a1-lacZ)1Ngma}/Lasp1^{Tg(Col1a1-lacZ)1Ngma}; Pax1^un-ex/Pax1^un-ex
• Genetic Background: involves: C57BL/6

skeleton

abnormal thoracic cage morphology ( J:153789 )

• rib joints are thickened compared to in wild-type mice

abnormal lumbar vertebrae morphology ( J:153789 )

• lumbar vertebra are compressed with split vertebrae that fail to fuse unlike in wild-type mice

vertebral compression ( J:153789 )

• the lumbar vertebra are compressed

limbs/digits/tail

kinked tail ( J:153789 )

• during the first weak after birth, mice exhibit a sharp hair pin-like upturn in their tails immediately after the last sacral vertebrae that is more severe than in single homozygotes

• mice develop kicks and strong bends in their tails