- increased circulating thyroid-stimulating hormone level / MGI
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- decreased compact bone thickness / MGI
- short limbs / MGI
- abnormal bone remodeling / MGI
- delayed endochondral bone ossification / MGI
- increased thyroid-stimulating hormone level / MGI
- abnormal epiphyseal plate morphology / MGI
- abnormal bone trabecula morphology / MGI
- decreased bone volume / MGI
- decreased femur compact bone thickness / MGI
- decreased bone mineral density of femur / MGI
- decreased bone mineralization / MGI
- small ears / MGI
- abnormal organ of Corti morphology / MGI
- abnormal middle ear morphology / MGI
- abnormal thyroid gland morphology / MGI
- uterus hypoplasia / MGI
- dilated uterine cervix / MGI
- vagina atresia / MGI
- arrest of spermatogenesis / MGI
- postnatal growth retardation / MGI
- male infertility / MGI
- female infertility / MGI
- deafness / MGI
- premature death / MGI
- abnormal outer ear morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal caput epididymis morphology / MGI
- abnormal corpus epididymis morphology / MGI
- small thyroid gland / MGI
- testicular atrophy / MGI
- abnormal thyroid gland development / MGI
- abnormal uterus development / MGI
- abnormal pillar cell morphology / MGI
- abnormal Mullerian duct morphology / MGI
- abnormal adenohypophysis morphology / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal cochlear inner hair cell physiology / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- abnormal inner hair cell synaptic ribbon morphology / MGI
- enlarged tectorial membrane / MGI
- abnormal cochlear IHC efferent innervation pattern / MGI
- absent thyroid follicular cells / MGI
- abnormal thyroid diverticulum morphology / MGI
- delayed inner ear development / MGI
- abnormal stapedial artery morphology / MGI
- absent stapedial artery / MGI
- absent epididymis / MGI
- absent efferent ductules of testis / MGI
- decreased testis weight / MGI
- small epididymis / MGI
- abnormal epididymis epithelium morphology / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal stapes morphology / MGI
- abnormal action potential / MGI
- decreased circulating thyroxine level / MGI
- decreased circulating triiodothyronine level / MGI
- absent outer ear / MGI
- abnormal external auditory canal morphology / MGI
- thin myometrium / MGI
- decreased somatotroph cell number / MGI
- decreased lactotroph cell number / MGI
- increased thyrotroph cell number / MGI
- dilated oviduct / MGI
- absent uterine horn / MGI
- absent endometrium / MGI
- abnormal kinocilium morphology / MGI
- lethality at weaning, complete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal auditory bulla morphology / MGI
- abnormal stapes crus morpholgy / MGI
- small round window / MGI
- absent round window / MGI
B6.129-Pax8tm1Pgr/Cnrm
Status | Available to order |
EMMA ID | EM:00141 |
International strain name | B6.129-Pax8tm1Pgr/Cnrm |
Alternative name | Pax8-KO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Pax8tm1Pgr |
Gene/Transgene symbol | Pax8 |
Information from provider
Provider | Peter Gruss |
Provider affiliation | Max Planck Inst. Biophysical Chemistry |
Phenotypic information | By analysis of Pax8-/- mice, it was demonstrated that Pax8 is required for the formation of the follicular cells in the thyroid. Pax8 is necessary for providing cues for the differentiation of competent endoderm primordia into thyroxin-producing follicular cells. |
Breeding history | Backcrossed to C57BL/6 (more than 10 generations) |
References |
|
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Athyreosis / Orphanet_95713
- Thyroid ectopia / Orphanet_95712
- Thyroid hypoplasia / Orphanet_95720
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- small ears / MGI
- abnormal organ of Corti morphology / MGI
- abnormal middle ear morphology / MGI
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- decreased compact bone thickness / MGI
- short limbs / MGI
- abnormal thyroid gland morphology / MGI
- uterus hypoplasia / MGI
- dilated uterine cervix / MGI
- vagina atresia / MGI
- arrest of spermatogenesis / MGI
- postnatal growth retardation / MGI
- male infertility / MGI
- female infertility / MGI
- deafness / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- abnormal outer ear morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal caput epididymis morphology / MGI
- abnormal corpus epididymis morphology / MGI
- small thyroid gland / MGI
- abnormal bone remodeling / MGI
- no phenotypic analysis / MGI
- testicular atrophy / MGI
- delayed endochondral bone ossification / MGI
- abnormal thyroid gland development / MGI
- abnormal uterus development / MGI
- abnormal pillar cell morphology / MGI
- abnormal Mullerian duct morphology / MGI
- abnormal adenohypophysis morphology / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal cochlear inner hair cell physiology / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- abnormal inner hair cell synaptic ribbon morphology / MGI
- enlarged tectorial membrane / MGI
- abnormal cochlear IHC efferent innervation pattern / MGI
- absent thyroid follicular cells / MGI
- abnormal thyroid diverticulum morphology / MGI
- delayed inner ear development / MGI
- abnormal stapedial artery morphology / MGI
- absent stapedial artery / MGI
- absent epididymis / MGI
- absent efferent ductules of testis / MGI
- decreased testis weight / MGI
- small epididymis / MGI
- abnormal epididymis epithelium morphology / MGI
- abnormal middle ear ossicle morphology / MGI
- abnormal stapes morphology / MGI
- increased circulating thyroid-stimulating hormone level / MGI
- increased thyroid-stimulating hormone level / MGI
- absent thyroid gland / MGI
- abnormal action potential / MGI
- decreased circulating thyroxine level / MGI
- decreased circulating triiodothyronine level / MGI
- absent outer ear / MGI
- abnormal external auditory canal morphology / MGI
- abnormal epiphyseal plate morphology / MGI
- thin myometrium / MGI
- decreased somatotroph cell number / MGI
- decreased lactotroph cell number / MGI
- increased thyrotroph cell number / MGI
- dilated oviduct / MGI
- absent uterine horn / MGI
- absent endometrium / MGI
- abnormal bone trabecula morphology / MGI
- decreased bone volume / MGI
- abnormal kinocilium morphology / MGI
- lethality at weaning, complete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- decreased femur compact bone thickness / MGI
- decreased bone mineral density of femur / MGI
- decreased bone mineralization / MGI
- abnormal auditory bulla morphology / MGI
- abnormal stapes crus morpholgy / MGI
- small round window / MGI
- absent round window / MGI
Literature references
- Follicular cells of the thyroid gland require Pax8 gene function.;Mansouri A, Chowdhury K, Gruss P, ;1998;Nature genetics;19;87-90; 9590297
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