C57BL/6N-Mir96^{tm3.2(IMPC)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:11885
International strain name	C57BL/6N-Mir96^{tm3.2(IMPC)Wtsi}/WtsiH
Alternative name	Mir96+14C>A
Strain type	Targeted Mutant Strains : Point mutation
Allele/Transgene symbol	Mir96^{tm3.2(IMPC)Wtsi}
Gene/Transgene symbol	Mir96
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 ES clone BEPD0003_D07. Point mutation: Mir96+14C to A (also known as Mir96-nt29C-A or Mir96Tm3.1Wtsi). This is a knock-in of a human single base change described in the MIR96 gene in family s1334, where C has been changed to A at location 14 of the seed region of the microRNA Mir96. For further details on the construction of this clone see the page at the IMPC portal. Potential phenotyping data in the IMPC portal.
References	Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.;Lewis Morag A, Lachgar-Ruiz Maria, Di Domenico Francesca, Duddy Graham, Chen Jing, Fernandez Sergio, Morin Matias, Williams Gareth, Moreno Pelayo Miguel Angel, Steel Karen P, ;2024;Genome medicine;16;121; 39434156

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

IMPC phenotypes (allele matching)

abnormal gait / IMPC
stereotypic behavior / IMPC
trunk curl / IMPC
impaired righting response / IMPC
abnormal auditory brainstem response / IMPC
absent pinna reflex / IMPC
increased circulating amylase level / IMPC
increased circulating iron level / IMPC

IMPC phenotypes (gene matching)

abnormal startle reflex / IMPC
abnormal auditory brainstem response / IMPC
increased leukocyte cell number / IMPC
trunk curl / IMPC
decreased body length / IMPC
increased bone mineral content / IMPC
increased thermal nociceptive threshold / IMPC
abnormal gait / IMPC
impaired righting response / IMPC
abnormal behavior / IMPC
decreased body weight / IMPC
increased circulating iron level / IMPC
increased lean body mass / IMPC
decreased heart weight / IMPC
increased circulating amylase level / IMPC
decreased lean body mass / IMPC
abnormal bone mineralization / IMPC
stereotypic behavior / IMPC
increased total body fat amount / IMPC
decreased bone mineral density / IMPC
limb grasping / IMPC
abnormal cornea morphology / IMPC
absent pinna reflex / IMPC

MGI phenotypes (gene matching)

circling / MGI
abnormal gait / MGI
head bobbing / MGI
abnormal pinna reflex / MGI
deafness / MGI
no abnormal phenotype detected / MGI
cochlear hair cell degeneration / MGI
cochlear outer hair cell degeneration / MGI
decreased cochlear hair cell number / MGI
absent cochlear nerve compound action potential / MGI
decreased cochlear nerve compound action potential / MGI
fused vestibular hair cell stereocilia / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
impaired hearing / MGI
absent pinna reflex / MGI

Literature references

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.;Lewis Morag A, Lachgar-Ruiz Maria, Di Domenico Francesca, Duddy Graham, Chen Jing, Fernandez Sergio, Morin Matias, Williams Gareth, Moreno Pelayo Miguel Angel, Steel Karen P, ;2024;Genome medicine;16;121; 39434156

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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^*
Tissue - Types of tissue, 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).

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Practical information

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C57BL/6N-Mir96tm3.2(IMPC)Wtsi/WtsiH