C57BL/6J-Nfix^em3H/H

Status	Available to order
EMMA ID	EM:15294
Citation information	RRID:IMSR_EM:15294 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/6J-Nfix^em3H/H
Alternative name	C57BL/6J-Nfixem3H/H
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Nfix^em3H
Gene/Transgene symbol	Nfix

Information from provider

Provider	Raj Thakker
Provider affiliation	Academic Endocrine Unit, University of Oxford
Genetic information	These mice carry a CRISPR/Cas9-induced mutation which has deleted 2 nucleotides in exon 7 of the Nfix gene (Chr 8). More specifically, Nfix Del2 consists of a frameshift two-nucleotide deletion from position +49,580 to +49,581 relative to the translation start site which has introduced a premature stop codon.
Phenotypic information	Homozygous: Lethal at 2 to 3 weeks of age. Heterozygous: Heterozygous mice exhibit a variety of phenotypes including growth retardation, kyphosis, low bone mineral content, increased alkaline phosphatase activity.
Breeding history	Coisogenic on a C57BL/6J background.
References	A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.;Kooblall Kreepa G, Stevenson Mark, Stewart Michelle, Harris Lachlan, Zalucki Oressia, Dewhurst Hannah, Butterfield Natalie, Leng Houfu, Hough Tertius A, Ma Da, Siow Bernard, Potter Paul, Cox Roger D, Brown Stephen D M, Horwood Nicole, Wright Benjamin, Lockstone Helen, Buck David, Vincent Tonia L, Hannan Fadil M, Bassett J H Duncan, Williams Graham R, Lines Kate E, Piper Michael, Wells Sara, Teboul Lydia, Hennekam Raoul C, Thakker Rajesh V, ;2023;JBMR plus;7;e10739; 37283649
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	not known

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

Malan overgrowth syndrome / Orphanet_420179
Marshall-Smith syndrome / Orphanet_561

MGI phenotypes (gene matching)

delayed bone ossification / MGI
decreased compact bone thickness / MGI
abnormal vertebral body morphology / MGI
kyphosis / MGI
scoliosis / MGI
lordosis / MGI
abnormal long bone hypertrophic chondrocyte zone / MGI
megacephaly / MGI
domed cranium / MGI
abnormal small intestine morphology / MGI
abnormal corpus callosum morphology / MGI
abnormal cerebral cortex morphology / MGI
abnormal hippocampus morphology / MGI
abnormal dentate gyrus morphology / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
weight loss / MGI
decreased body size / MGI
delayed eyelid opening / MGI
ataxia / MGI
limb grasping / MGI
hydroencephaly / MGI
abnormal craniofacial bone morphology / MGI
abnormal brain morphology / MGI
no abnormal phenotype detected / MGI
increased brain weight / MGI
abnormal inner ear canal morphology / MGI
abnormal cranial suture morphology / MGI
abnormal bone mineralization / MGI
abnormal long bone epiphyseal plate morphology / MGI
delayed endochondral bone ossification / MGI
abnormal long bone epiphyseal plate proliferative zone / MGI
abnormal intervertebral disk morphology / MGI
abnormal spine curvature / MGI
intervertebral disk degeneration / MGI
abnormal timing of postnatal eyelid opening / MGI
craniofacial phenotype / MGI
increased long bone epiphyseal plate size / MGI
abnormal hippocampus CA1 region morphology / MGI
slow postnatal weight gain / MGI
enlarged lateral ventricles / MGI
decreased trabecular bone thickness / MGI
decreased trabecular bone mass / MGI
lethality at weaning, incomplete penetrance / MGI

Literature references

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.;Kooblall Kreepa G, Stevenson Mark, Stewart Michelle, Harris Lachlan, Zalucki Oressia, Dewhurst Hannah, Butterfield Natalie, Leng Houfu, Hough Tertius A, Ma Da, Siow Bernard, Potter Paul, Cox Roger D, Brown Stephen D M, Horwood Nicole, Wright Benjamin, Lockstone Helen, Buck David, Vincent Tonia L, Hannan Fadil M, Bassett J H Duncan, Williams Graham R, Lines Kate E, Piper Michael, Wells Sara, Teboul Lydia, Hennekam Raoul C, Thakker Rajesh V, ;2023;JBMR plus;7;e10739; 37283649

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C57BL/6J-Nfixem3H/H