Phenotypes associated with this allele

• Allele Symbol: Pax1^un-i
• Allele Name: undulated intermediate
• Allele ID: MGI:3603176
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax1^un-i/Pax1^un-i	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:3603923
ht2	Pax1^un-i/Pax1^+	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	MGI:3603924

Genotype
MGI:3603923

hm1

• Allelic Composition: Pax1^un-i/Pax1^un-i
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

skeleton

abnormal humerus morphology ( J:100951 )

abnormal deltoid tuberosity morphology ( J:100951 )

• the deltoid tuberosity of the proximal humerus is shortened and thickened

abnormal scapula morphology ( J:100951 )

absent acromion ( J:100951 )

abnormal scapular spine morphology ( J:100951 )

• lack of the distal portion of the scapular spine

sternebra fusion ( J:100951 )

• about 1/3 of homozygotes show fusion of the 4th and 5th sternebrae

abnormal intervertebral disk morphology ( J:100951 )

• the intervertebral disks are sometimes missing or, more frequently, split

absent intervertebral disk ( J:100951 )

• sometimes missing

scoliosis ( J:100951 )

• scoliosis in the lumbar region becomes overt by 4 weeks of age and impairs movement by 3 months of age

• Background Sensitivity: this phenotype is more severe on a 129 background compared to a mixed 129 and C57BL/6J background

abnormal vertebrae morphology ( J:100951 )

abnormal caudal vertebrae morphology ( J:100951 )

• development of the distal tail vertebrae is retarded

abnormal cervical atlas morphology ( J:100951 )

abnormal ventral tubercle of atlas morphology ( J:100951 )

• the ventral tubercle of the anterior arch of the atlas is enlarged and fused to the odontoid process of the axis

fusion of atlas and odontoid process ( J:100951 )

• the pedicles of the atlas are connected to the odontoid process by ossified medial extensions and the ventral tubercle of the anterior arch of the atlas is enlarged and fused to the odontoid process of the axis

abnormal lumbar vertebrae morphology ( J:100951 )

• in most mice lumbar vertebrae 1 - 6 show dual ossification centers of the vertebral body that are fused with those of the pedicles, the pedicles appear broadened, the transverse processes ossify earlier, and the dorsal neural arches remain unfused resulting in elongated spinous processes

abnormal vertebrae development ( J:100951 )

• the cartilaginous anlagen of the tail vertebrae are small and sometimes the distal ones are missing

abnormal vertebral arch development ( J:100951 )

• the pedicles and arches are excessively developed

vertebral body hypoplasia ( J:100951 )

• vertebral bodies are hypoplastic

abnormal bone structure ( J:100951 )

• an increased bone/cartilage proportion is seen compared to wild-type mice

absent sclerotome ( J:100951 )

• from E16.5 on, sclerotomal cells are sparse

embryo

abnormal notochord morphology ( J:100951 )

• from E13.5 to P1 the notochord is situated more dorsally, this becomes more apparent after E16.5

muscle

abnormal myotome development ( J:100951 )

• at E11.5 and E12.5, the myotome appears medially shortened and laterally broadened with the medial epaxial myotomes absent and segmentation in the lateral and hypaxial myotomes not as clear

behavior/neurological

abnormal locomotor behavior ( J:100951 )

• by 3 months of age homozygotes can no longer run or jump and drag the hind limbs when moving

• Background Sensitivity: this phenotype is more severe on a 129 background compared to a mixed 129 and C57BL/6J background

hematopoietic system

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced with the largest reduction seen at 6 weeks of age

decreased double-negative T cell number ( J:100951 )

• by 6 weeks of age the proportion of double negative cells is similar to wild-type although the total number of cells is decreased

increased double-negative T cell number ( J:100951 )

• at E17.5, the proportion of double negative cells is markedly increased and the total number of these cells is slightly increased

decreased double-positive T cell number ( J:100951 )

• at E17.5 the proportion and total number of double positive cells is decreased

• by 6 weeks of age the proportion of double positive cells is similar to wild-type while the total number of cells is still decreased

decreased CD4-positive, alpha-beta T cell number ( J:100951 )

• the number of CD4+ cells is decreased at 6 weeks of age

decreased CD8-positive, alpha-beta T cell number ( J:100951 )

• the number of CD8+ cells is decreased at 6 weeks of age

limbs/digits/tail

abnormal humerus morphology ( J:100951 )

abnormal deltoid tuberosity morphology ( J:100951 )

• the deltoid tuberosity of the proximal humerus is shortened and thickened

abnormal caudal vertebrae morphology ( J:100951 )

• development of the distal tail vertebrae is retarded

abnormal tail position or orientation ( J:100951 )

• the posture of the tail is laterally inclined

kinked tail ( J:100951 )

• visible at birth

immune system

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced with the largest reduction seen at 6 weeks of age

decreased double-negative T cell number ( J:100951 )

• by 6 weeks of age the proportion of double negative cells is similar to wild-type although the total number of cells is decreased

increased double-negative T cell number ( J:100951 )

• at E17.5, the proportion of double negative cells is markedly increased and the total number of these cells is slightly increased

decreased double-positive T cell number ( J:100951 )

• at E17.5 the proportion and total number of double positive cells is decreased

• by 6 weeks of age the proportion of double positive cells is similar to wild-type while the total number of cells is still decreased

decreased CD4-positive, alpha-beta T cell number ( J:100951 )

• the number of CD4+ cells is decreased at 6 weeks of age

decreased CD8-positive, alpha-beta T cell number ( J:100951 )

• the number of CD8+ cells is decreased at 6 weeks of age

endocrine/exocrine glands

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced with the largest reduction seen at 6 weeks of age

Genotype
MGI:3603924

ht2

• Allelic Composition: Pax1^un-i/Pax1⁺
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

immune system

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced compared to wild-type mice but increased compared to homozygous mutants

decreased CD4-positive, alpha-beta T cell number ( J:100951 )

• the number of CD4+ cells is decreased at 6 weeks of age compared to wild-type mice but increased compared to homozygous mutants

decreased CD8-positive, alpha-beta T cell number ( J:100951 )

• the number of CD8+ cells is decreased at 6 weeks of age compared to wild-type mice but increased compared to homozygous mutants

hematopoietic system

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced compared to wild-type mice but increased compared to homozygous mutants

decreased CD4-positive, alpha-beta T cell number ( J:100951 )

• the number of CD4+ cells is decreased at 6 weeks of age compared to wild-type mice but increased compared to homozygous mutants

decreased CD8-positive, alpha-beta T cell number ( J:100951 )

• the number of CD8+ cells is decreased at 6 weeks of age compared to wild-type mice but increased compared to homozygous mutants

endocrine/exocrine glands

decreased thymocyte number ( J:100951 )

• at E17.5, E19.5 and 6 weeks of age, thymocyte numbers are significantly reduced compared to wild-type mice but increased compared to homozygous mutants