Pax1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pax1
paired box 1
MGI:97485

63 phenotypes from 10 alleles in 13 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Lasp1^{Tg(Col1a1-lacZ)1Ngma}/Lasp1^{Tg(Col1a1-lacZ)1Ngma} Pax1^un-ex/Pax1^un-ex involves: C57BL/6	abnormal lumbar vertebrae morphology	J:153789
	abnormal thoracic cage morphology	J:153789
	kinked tail	J:153789
	vertebral compression	J:153789
Pax1^m1Btlr/Pax1^m1Btlr C57BL/6J-Pax1^m1Btlr	kinked tail	J:224656
Pax1^{tm1(sb-pLHED)Jtak}/Pax1^{tm1(sb-pLHED)Jtak} involves: 129S4/SvJae * C57BL/6	no abnormal phenotype detected	J:151776
Pax1^tm1.1Tlu/Pax1^tm1.1Tlu involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	no abnormal phenotype detected	J:198603
Pax1^tm1Neu/Pax1⁺ involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal cervical atlas morphology	J:49339
	abnormal lumbar vertebrae morphology	J:49339
	abnormal sternum morphology	J:49339
	abnormal ventral tubercle of atlas morphology	J:49339
	abnormal vertebrae morphology	J:49339
Pax1^tm1Neu/Pax1^tm1Neu involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal caudal vertebrae morphology	J:49339
	abnormal cervical atlas morphology	J:49339
	abnormal cervical axis morphology	J:49339
	abnormal cervical vertebrae morphology	J:49339
	abnormal lumbar vertebrae morphology	J:49339
	abnormal rib joint morphology	J:49339
	abnormal scapula morphology	J:49339
	abnormal sternum morphology	J:49339
	abnormal thoracic vertebrae morphology	J:49339
	abnormal ventral tubercle of atlas morphology	J:49339
	abnormal vertebral body morphology	J:49339
	abnormal vertebral column morphology	J:49339
	absent acromion	J:49339
	absent intervertebral disk	J:49339
	fusion of atlas and odontoid process	J:49339
	kinked tail	J:49339
	scoliosis	J:49339
	sternebra fusion	J:49339
Pax1^tm2.1Tlu/Pax1^tm2.1Tlu involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	decreased body size	J:198603
	decreased cell proliferation	J:198603
	kinked tail	J:198603
	short tail	J:198603
Pax1^tm2Neu/Pax1^tm2Neu involves: 129S1/Sv * C57BL/6	abnormal rib morphology	J:55575
	abnormal skeleton morphology	J:55575
	abnormal vertebral body morphology	J:55575
	small vertebral body	J:55575
Pax1^un-ex/Pax1^un-ex B6.Cg-Pax1^un-ex	abnormal cervical vertebrae morphology	J:49339
	abnormal craniofacial bone morphology	J:15087
	abnormal jaw morphology	J:15087
	abnormal lumbar vertebrae morphology	J:49339
	abnormal rib joint morphology	J:49339
	abnormal tail morphology	J:15087
	abnormal thoracic vertebrae morphology	J:49339
	abnormal vertebral column morphology	J:15087
	polysyndactyly	J:15087
	syndactyly	J:15087
Pax1^un-ex/Pax1^un-ex Not Specified	abnormal costovertebral joint morphology	J:23331
	abnormal lumbar vertebrae morphology	J:23331
	abnormal tail morphology	J:153789
	abnormal thoracic vertebrae morphology	J:23331
	abnormal vertebrae morphology	J:23331
	abnormal vertebral column morphology	J:23331
	abnormal vertebral pedicle morphology	J:23331
	absent intervertebral disk	J:23331
	absent vertebral body	J:23331
	absent vertebral transverse processes	J:23331
	scoliosis	J:153789
	split vertebrae	J:23331
	vertebral compression	J:23331, J:153789
Pax1^un-i/Pax1⁺ either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	decreased CD4-positive, alpha-beta T cell number	J:100951
	decreased CD8-positive, alpha-beta T cell number	J:100951
	decreased thymocyte number	J:100951
Pax1^un-i/Pax1^un-i either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)	abnormal bone structure	J:100951
	abnormal caudal vertebrae morphology	J:100951
	abnormal cervical atlas morphology	J:100951
	abnormal deltoid tuberosity morphology	J:100951
	abnormal humerus morphology	J:100951
	abnormal intervertebral disk morphology	J:100951
	abnormal locomotor behavior	J:100951
	abnormal lumbar vertebrae morphology	J:100951
	abnormal myotome development	J:100951
	abnormal notochord morphology	J:100951
	abnormal scapula morphology	J:100951
	abnormal scapular spine morphology	J:100951
	abnormal tail position or orientation	J:100951
	abnormal ventral tubercle of atlas morphology	J:100951
	abnormal vertebrae development	J:100951
	abnormal vertebrae morphology	J:100951
	abnormal vertebral arch development	J:100951
	absent acromion	J:100951
	absent intervertebral disk	J:100951
	absent sclerotome	J:100951
	decreased CD4-positive, alpha-beta T cell number	J:100951
	decreased CD8-positive, alpha-beta T cell number	J:100951
	decreased double-negative T cell number	J:100951
	decreased double-positive T cell number	J:100951
	decreased thymocyte number	J:100951
	fusion of atlas and odontoid process	J:100951
	increased double-negative T cell number	J:100951
	kinked tail	J:100951
	scoliosis	J:100951
	sternebra fusion	J:100951
	vertebral body hypoplasia	J:100951
Pax1^Un-s/Pax1⁺ involves: CC57BR/MvY	abnormal tail morphology	J:13467
	short tail	J:13467
	wavy tail	J:13467
Pax1^Un-s/Pax1^Un-s B6.CC57BR-Pax1^Un-s	abnormal cervical vertebrae morphology	J:49339
	abnormal intervertebral disk morphology	J:49339
	abnormal lumbar vertebrae morphology	J:49339
	abnormal rib joint morphology	J:49339
	abnormal thoracic vertebrae morphology	J:49339
	abnormal vertebral body morphology	J:49339
	absent intervertebral disk	J:49339
	absent vertebral body	J:49339
	short tail	J:49339
Pax1^Un-s/Pax1^Un-s involves: C57BL/6 * CC57BR/MvY	abnormal costovertebral joint morphology	J:16332
	abnormal vertebrae morphology	J:16332
	absent intervertebral disk	J:16332
	absent vertebral body	J:16332
Pax1^Un-s/Pax1^Un-s involves: CC57BR/MvY	lethality, complete penetrance	J:13467
Pax1^un/Pax1^un B6.Cg-Pax1^un	abnormal cervical vertebrae morphology	J:49339
	abnormal lumbar vertebrae morphology	J:49339
	abnormal rib joint morphology	J:49339
Pax1^un/Pax1^un Not Specified	abnormal caudal vertebrae morphology	J:13037
	abnormal intervertebral disk development	J:13043
	abnormal scapula morphology	J:13037
	abnormal tail morphology	J:13037
	abnormal vertebrae development	J:13043
	abnormal vertebrae morphology	J:13037
	absent acromion	J:13037
	kinked tail	J:13037
	kyphosis	J:13037
	short tail	J:13037
	small acromion	J:13037
	small caudal vertebrae	J:13037

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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