C3;C-Flna^Dilp2/H

Status	Available to order
EMMA ID	EM:00387
International strain name	C3;C-Flna^Dilp2/H
Alternative name	GENA379, Dilp2 (Dilated pupils 2)
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Flna^Dilp2
Gene/Transgene symbol	Flna

Information from provider

Provider	Caroline Thaung
Provider affiliation	MRC Mammalian Genetics Unit
Phenotypic information	Mice heterozygous for this mutation have dilated pulpils. Homozygous animals are not generated.
References	Cardiac malformations and midline skeletal defects in mice lacking filamin A.;Hart Alan W, Morgan Joanne E, Schneider Jürgen, West Katrine, McKie Lisa, Bhattacharya Shoumo, Jackson Ian J, Cross Sally H, ;2006;Human molecular genetics;15;2457-67; 16825286 A meckelin-filamin A interaction mediates ciliogenesis.;Adams Matthew, Simms Roslyn J, Abdelhamed Zakia, Dawe Helen R, Szymanska Katarzyna, Logan Clare V, Wheway Gabrielle, Pitt Eva, Gull Keith, Knowles Margaret A, Blair Edward, Cross Sally H, Sayer John A, Johnson Colin A, ;2012;Human molecular genetics;21;1272-86; 22121117

Information from EMMA

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

Disease and phenotype information

MGI allele-associated human disease models

periventricular nodular heterotopia / DOID:0050454

Orphanet associated rare diseases, based on orthologous gene matching

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome / Orphanet_482606
Periventricular nodular heterotopia / Orphanet_98892
X-linked Ehlers-Danlos syndrome / Orphanet_75497
Otopalatodigital syndrome type 2 / Orphanet_90652
Frontometaphyseal dysplasia / Orphanet_1826
Otopalatodigital syndrome type 1 / Orphanet_90650
Melnick-Needles syndrome / Orphanet_2484
Congenital short bowel syndrome / Orphanet_2301
Neuronal intestinal pseudoobstruction / Orphanet_99811
FLNA-related X-linked myxomatous valvular dysplasia / Orphanet_555877
Terminal osseous dysplasia-pigmentary defects syndrome / Orphanet_88630

MGI phenotypes (allele matching)

abnormal eye morphology / MGI
mydriasis / MGI
abnormal sternum morphology / MGI
abnormal xiphoid process morphology / MGI
double outlet right ventricle / MGI
irregularly shaped pupil / MGI
abnormal palatal shelf fusion at midline / MGI
ventricular septal defect / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

abnormal sternum morphology / MGI
abnormal xiphoid process morphology / MGI
increased leukocyte cell number / MGI
abnormal heart morphology / MGI
double outlet right ventricle / MGI
irregularly shaped pupil / MGI
hepatic necrosis / MGI
edema / MGI
reduced female fertility / MGI
emphysema / MGI
premature death / MGI
abnormal eye morphology / MGI
mydriasis / MGI
dilated heart / MGI
abnormal thrombosis / MGI
abnormal palatal shelf fusion at midline / MGI
ventricular septal defect / MGI
postnatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI

Literature references

Cardiac malformations and midline skeletal defects in mice lacking filamin A.;Hart Alan W, Morgan Joanne E, Schneider Jürgen, West Katrine, McKie Lisa, Bhattacharya Shoumo, Jackson Ian J, Cross Sally H, ;2006;Human molecular genetics;15;2457-67; 16825286
A meckelin-filamin A interaction mediates ciliogenesis.;Adams Matthew, Simms Roslyn J, Abdelhamed Zakia, Dawe Helen R, Szymanska Katarzyna, Logan Clare V, Wheway Gabrielle, Pitt Eva, Gull Keith, Knowles Margaret A, Blair Edward, Cross Sally H, Sayer John A, Johnson Colin A, ;2012;Human molecular genetics;21;1272-86; 22121117
Filamin a regulates neural progenitor proliferation and cortical size through Wee1-dependent Cdk1 phosphorylation.;Lian Gewei, Lu Jie, Hu Jianjun, Zhang Jingping, Cross Sally H, Ferland Russell J, Sheen Volney L, ;2012;The Journal of neuroscience : the official journal of the Society for Neuroscience;32;7672-84; 22649246

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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 embryos. 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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C3;C-FlnaDilp2/H