C57BL/6N-A^tm1Brd Pthlh^{tm1a(KOMP)Wtsi}/WtsiOrl

Status	Available to order
EMMA ID	EM:07507
Citation information	RRID:IMSR_EM:07507 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6N-A^tm1Brd Pthlh^{tm1a(KOMP)Wtsi}/WtsiOrl
Alternative name	EPD0798_1_C02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Pthlh^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Pthlh
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from KOMP ES clone EPD0798_1_C02. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Brachydactyly type E / Orphanet_93387

IMPC phenotypes (allele matching)

abnormal head morphology / IMPC
abnormal cranium morphology / IMPC
increased blood urea nitrogen level / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

abnormal head morphology / IMPC
abnormal cranium morphology / IMPC
increased blood urea nitrogen level / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (gene matching)

decreased bone mineral density / MGI
osteoporosis / MGI
short mandible / MGI
failure of tooth eruption / MGI
abnormal trabecular bone morphology / MGI
abnormal long bone metaphysis morphology / MGI
abnormal vertebral body morphology / MGI
abnormal rib morphology / MGI
kyphosis / MGI
abnormal cartilage development / MGI
abnormal long bone hypertrophic chondrocyte zone / MGI
decreased chondrocyte number / MGI
decreased cell proliferation / MGI
domed cranium / MGI
short snout / MGI
abnormal mandible morphology / MGI
short limbs / MGI
enlarged liver sinusoidal spaces / MGI
decreased brain size / MGI
abnormal forebrain morphology / MGI
abnormal lung morphology / MGI
abnormal lung development / MGI
atelectasis / MGI
thin epidermis / MGI
hyperkeratosis / MGI
decreased body size / MGI
abnormal gait / MGI
abnormal circulating calcium level / MGI
cyanosis / MGI
abnormal blood vessel morphology / MGI
postnatal growth retardation / MGI
respiratory failure / MGI
abnormal skeleton development / MGI
abnormal axial skeleton morphology / MGI
no abnormal phenotype detected / MGI
abnormal type II pneumocyte morphology / MGI
abnormal lung interstitium morphology / MGI
disproportionate dwarf / MGI
chondrodystrophy / MGI
short tibia / MGI
abnormal bone mineralization / MGI
abnormal long bone epiphyseal plate morphology / MGI
short femur / MGI
enlarged parathyroid gland / MGI
increased width of hypertrophic chondrocyte zone / MGI
premature bone ossification / MGI
premature endochondral bone ossification / MGI
small lung / MGI
abnormal long bone epiphyseal plate proliferative zone / MGI
abnormal long bone morphology / MGI
premature aging / MGI
abnormal bone structure / MGI
increased compact bone thickness / MGI
abnormal calcium ion homeostasis / MGI
short sternum / MGI
short humerus / MGI
short radius / MGI
short ulna / MGI
short ribs / MGI
splayed ribs / MGI
decreased length of long bones / MGI
small thoracic cavity / MGI
abnormal brain vasculature morphology / MGI
abnormal osteoclast morphology / MGI
decreased osteoclast cell number / MGI
abnormal osteoblast morphology / MGI
increased osteoblast cell number / MGI
decreased osteoblast cell number / MGI
cachexia / MGI
abnormal clavicle morphology / MGI
growth/size/body region phenotype / MGI
skeleton phenotype / MGI
decreased circulating glucose level / MGI
increased apoptosis / MGI
abnormal inferior vena cava morphology / MGI
decreased long bone epiphyseal plate size / MGI
increased diameter of long bones / MGI
abnormal autophagy / MGI
abnormal bone ossification / MGI
abnormal sternum ossification / MGI
abnormal osteoblast differentiation / MGI
abnormal cervical rib / MGI
protruding tongue / MGI
decreased total body fat amount / MGI
abnormal thoracic cage shape / MGI
absent type I pneumocytes / MGI
abnormal lung saccule morphology / MGI
small lung saccule / MGI
abnormal bone trabecula morphology / MGI
decreased alveolar lamellar body number / MGI
abnormal pulmonary alveolus epithelium morphology / MGI
decreased surfactant secretion / MGI
postnatal lethality, complete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
thick lung-associated mesenchyme / MGI
abnormal mesenchymal cell differentiation involved in lung development / MGI
abnormal ductus venosus valve morphology / MGI
embryo tumor / MGI
decreased chondrocyte proliferation / MGI
increased chondrocyte apoptosis / MGI
increased osteoblast apoptosis / MGI
increased osteocyte apoptosis / MGI

Literature references

Functional analysis of candidate genes from genome-wide association studies of hearing.;Ingham Neil J, Rook Victoria, Di Domenico Francesca, James Elysia, Lewis Morag A, Girotto Giorgia, Buniello Annalisa, Steel Karen P, ;2020;Hearing research;387;107879; 31927188

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C57BL/6N-Atm1Brd Pthlhtm1a(KOMP)Wtsi/WtsiOrl