- 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
C3H.C-Zic2Ku/H
Status | Available to order |
EMMA ID | EM:01725 |
International strain name | C3H.C-Zic2Ku/H |
Alternative name | Kumba, GENA29 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Zic2Ku, |
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 |
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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
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)
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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