Phenotypes associated with this allele

• Allele Symbol: Pax1^un
• Allele Name: undulated
• Allele ID: MGI:1856222
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax1^un/Pax1^un	B6.Cg-Pax1^un	MGI:3845245
hm2	Pax1^un/Pax1^un	Not Specified	MGI:3829264
cx3	Pax1^un/Pax1^+ Tcf3^tm1Cmu/Tcf3^tm1Cmu	involves: 129P2/OlaHsd * C3H * C57BL/6	MGI:3776838
cx4	Pax1^un/Pax1^un Ph/Ph^+	involves: C3HeB/FeJ * C57BL/6J	MGI:3829367
cx5	kkt/kkt^+ Pax1^un/Pax1^+	involves: C57BL/6 * CBA	MGI:4437579

Genotype
MGI:3845245

hm1

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

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

skeleton

abnormal rib joint morphology ( J:49339 )

• the proximal ends of the thirteenth rib pair are ossified unlike in wild-type mice

abnormal cervical vertebrae morphology ( J:49339 )

• the ossification center of C7 is missing unlike in wild-type mice

abnormal lumbar vertebrae morphology ( J:49339 )

• the ossification centers at L3 and all caudally following segments are fused to the pedicles

• duel ossification centers are found from L2 to L5 and the centrum of L4 is completely split

Genotype
MGI:3829264

hm2

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

limbs/digits/tail

abnormal tail morphology ( J:13037 )

abnormal caudal vertebrae morphology ( J:13037 )

small caudal vertebrae ( J:13037 )

short tail ( J:13037 )

kinked tail ( J:13037 )

• kinks can be flattened out but return when tail is released

skeleton

abnormal scapula morphology ( J:13037 )

absent acromion ( J:13037 )

• reduction in size or complete absence

small acromion ( J:13037 )

• reduction in size or complete absence

kyphosis ( J:13037 )

• outward curvature spans the lower thoracic and lumbar regions

abnormal vertebrae morphology ( J:13037 )

• all vertebrae are affected

abnormal caudal vertebrae morphology ( J:13037 )

small caudal vertebrae ( J:13037 )

abnormal vertebrae development ( J:13043 )

• at E11 contributing mesenchymal condensations are smaller than normal, remain posterior to the sclerotomic fissure and enter into intervertebral disks

abnormal intervertebral disk development ( J:13043 )

• disks are larger than normal

Genotype
MGI:3776838

cx3

• Allelic Composition: Pax1^un/Pax1⁺; Tcf3^tm1Cmu/Tcf3^tm1Cmu
• Genetic Background: involves: 129P2/OlaHsd * C3H * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:103567 )

• most mice die postnatally due to are cannibalization

reproductive system

infertility ( J:103567 )

nervous system

open neural tube ( J:103567 )

• mice are born with non-lethal neural tube defects at the lumbosacral region over which skin grows

spina bifida ( J:103567 )

renal/urinary system

abnormal renal/urinary system morphology ( J:103567 )

• mice exhibit high outflow tract resistance

immune system

abnormal T cell differentiation ( J:103567 )

• T cell transition to double positive is partially blocked

abnormal T cell subpopulation ratio ( J:103567 )

• the ratio of CD4 over CD8 T cells is reduced compared to in wild-type mice

limbs/digits/tail

curly tail ( J:103567 )

hematopoietic system

abnormal T cell differentiation ( J:103567 )

• T cell transition to double positive is partially blocked

abnormal T cell subpopulation ratio ( J:103567 )

• the ratio of CD4 over CD8 T cells is reduced compared to in wild-type mice

embryo

open neural tube ( J:103567 )

• mice are born with non-lethal neural tube defects at the lumbosacral region over which skin grows

spina bifida ( J:103567 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:103567

Genotype
MGI:3829367

cx4

• Allelic Composition: Pax1^un/Pax1^un; Ph/Ph⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

nervous system

spina bifida occulta ( J:28396 )

• Background Sensitivity: spina bifida is more severe than seen with the mutation undulated alone

pigmentation

white spotting ( J:28396 )

variable body spotting ( J:28396 )

skeleton

spina bifida occulta ( J:28396 )

• Background Sensitivity: spina bifida is more severe than seen with the mutation undulated alone

embryo

spina bifida occulta ( J:28396 )

• Background Sensitivity: spina bifida is more severe than seen with the mutation undulated alone

integument

white spotting ( J:28396 )

variable body spotting ( J:28396 )

Genotype
MGI:4437579

cx5

• Allelic Composition: kkt/kkt⁺; Pax1^un/Pax1⁺
• Genetic Background: involves: C57BL/6 * CBA

skeleton

skeleton phenotype ( J:60410 )

N • newborns exhibit a normal sternum; no fusion of the fourth and fifth sternebrae is observed, unlike in kkt or Pax1^un homozygotes

small acromion ( J:60410 )

• newborns exhibit a severe reduction in the acromion of the scapula

abnormal axial skeleton morphology ( J:60410 )

• newborns display skeletal defects similar to those observed in Pax1^un homozygotes, but milder than in kkt homozygotes, except for the split vertebral body seen in multiple vertebrae between L2 and L5

abnormal thoracic vertebrae morphology ( J:60410 )

• all newborns exhibit bilateral ossification centers in the lower thoracic vertebrae; however, the ossification centers are not fused to the pedicles, unlike in kkt homozygotes

abnormal lumbar vertebrae morphology ( J:60410 )

• all newborns exhibit bilateral ossification centers in the lumbar vertebrae

• ossification centers are only fused to the pedicles in the lower lumbar region

• a split vertebral body is observed in multiple vertebrae between L2 and L5, and this is far more severe than in either kkt or Pax1^un homozygotes

• however, the transverse processes in L6 are all pointing forward, similar to those in wild-type control neonates

abnormal vertebral body morphology ( J:60410 )

• a split vertebral body is observed in L3, L4, and L5