C3H.C-Zic2^Ku/H

Status	Available to order
EMMA ID	EM:01725
International strain name	C3H.C-Zic2^Ku/H
Alternative name	Kumba, GENA29
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Zic2^Ku
Gene/Transgene symbol	Zic2

Information from provider

Provider	Ruth Arkell
Provider affiliation	MRC Mammalian Genetics Unit
Genetic information	The point mutation was identified as an A to T transversion at nucleotide 1350 of Zic2 (zinc finger domain-encoding sequence).
Phenotypic information	Rare neural tube defects (approx. 1% of mice born with delayed posterior neural tube closure) or tail kink and ventral spotting in heterozygotes. Mutation maintained by backcrosses to C3H. The C3H background seems to decrease the penetrance of the visible heterozygous phenotypes. Mid-gestational lethality, with embryos exhibiting neural tube and other defects in homozygotes.
References	A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C3H/HeH
Breeding at archiving centre	Archived as 2-cell embryos produced by IVF, using a heterozygous sperm donor congenic on a C3H/HeH genetic background, and wild-type C3H/HeH female oocyte donors.
Stage of embryos	2-cell

Disease and phenotype information

MGI allele-associated human disease models

holoprosencephaly 5 / DOID:0110878

Orphanet associated rare diseases, based on orthologous gene matching

Alobar holoprosencephaly / Orphanet_93925
Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
Microform holoprosencephaly / Orphanet_280200
Septopreoptic holoprosencephaly / Orphanet_280195
Semilobar holoprosencephaly / Orphanet_220386
Lobar holoprosencephaly / Orphanet_93924
Holoprosencephaly / Orphanet_2162

MGI phenotypes (allele matching)

belly spot / MGI
kinked tail / MGI
curly tail / MGI
spina bifida / MGI
exencephaly / MGI
incomplete rostral neuropore closure / MGI
abnormal eye distance/ position / MGI
abnormal notochord morphology / MGI
abnormal forebrain development / MGI
increased ectoderm apoptosis / MGI
abnormal primitive node morphology / MGI
abnormal prechordal plate morphology / MGI
holoprosencephaly / MGI
cyclopia / MGI
ocular hypotelorism / MGI
proboscis / MGI
hematoma / MGI
decreased neural crest cell number / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
delayed caudal neuropore closure / MGI
decreased rhombomere 3 size / MGI
decreased rhombomere 5 size / MGI
rostral body truncation / MGI

MGI phenotypes (gene matching)

belly spot / MGI
microcephaly / MGI
abnormal intestine morphology / MGI
abnormal autopod morphology / MGI
kinked tail / MGI
hindlimb paralysis / MGI
decreased brain size / MGI
decreased corpus callosum size / MGI
abnormal cerebral cortex morphology / MGI
abnormal amygdala morphology / MGI
abnormal olfactory bulb morphology / MGI
abnormal brain development / MGI
exencephaly / MGI
abnormal roof plate morphology / MGI
incomplete rostral neuropore closure / MGI
abnormal telencephalon development / MGI
abnormal dorsal root ganglion morphology / MGI
abnormal enteric nervous system morphology / MGI
abnormal enteric neuron morphology / MGI
abnormal eye distance/ position / MGI
hyperactivity / MGI
hypoactivity / MGI
abnormal spatial learning / MGI
increased startle reflex / MGI
anencephaly / MGI
abnormal limb bone morphology / MGI
abnormal neural tube morphology / MGI
abnormal notochord morphology / MGI
curly tail / MGI
spina bifida / MGI
abnormal forebrain development / MGI
abnormal nervous system development / MGI
decreased aggression towards mice / MGI
increased ectoderm apoptosis / MGI
abnormal primitive node morphology / MGI
abnormal prechordal plate morphology / MGI
abnormal vertebral arch morphology / MGI
fusion of vertebral arches / MGI
fused metacarpal bones / MGI
fused metatarsal bones / MGI
abnormal neural fold formation / MGI
holoprosencephaly / MGI
cyclopia / MGI
behavior/neurological phenotype / MGI
abnormal neural plate morphology / MGI
ocular hypotelorism / MGI
thin cerebral cortex / MGI
abnormal spinal cord dorsal horn morphology / MGI
proboscis / MGI
abnormal neurite morphology / MGI
abnormal spatial working memory / MGI
enlarged lateral ventricles / MGI
abnormal cerebral hemisphere morphology / MGI
hematoma / MGI
fused carpal bones / MGI
fused tarsal bones / MGI
decreased neuron number / MGI
decreased prepulse inhibition / MGI
impaired contextual conditioning behavior / MGI
impaired cued conditioning behavior / MGI
decreased neural crest cell number / MGI
abnormal intestine physiology / MGI
postnatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
rostral body truncation / MGI
delayed caudal neuropore closure / MGI
decreased rhombomere 3 size / MGI
decreased rhombomere 5 size / MGI
abnormal enteric neural crest cell morphology / MGI

Literature references

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191

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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.

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C3H.C-Zic2Ku/H