B6;129P2-Cycs^tm1Mak/Cnbc

Status	Available to order
EMMA ID	EM:07227
International strain name	B6;129P2-Cycs^tm1Mak/Cnbc
Alternative name	Cytochrome C 129Ola/B6
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Cycs^tm1Mak
Gene/Transgene symbol	Cycs

Information from provider

Provider	Tak W Mak
Provider affiliation	Division of Stem Cell and Developmental Biology, Advanced Medical Discovery Institute/Ontario Cancer Institute
Genetic information	We used site-directed mutagenesis to mutate the codon AAA that starts at nucleotide 216. The K72A (KA) knock-in allele was introduced into the murine genomic cytochrome c (Cycs) locus in embryonic stem cells by homologous recombination.
Phenotypic information	We generated knock-in mice expressing a mutant cytochrome c (Cycs gene, KA allele), which retains normal electron transfer function but fails to activate Apaf1. Most KA/KA mice displayed embryonic or perinatal lethality caused by defects in the central nervous system, and surviving mice exhibited impaired lymphocyte homeostasis.
References	Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis.;Hao Zhenyue, Duncan Gordon S, Chang Chia-Che, Elia Andrew, Fang Min, Wakeham Andrew, Okada Hitoshi, Calzascia Thomas, Jang YingJu, You-Ten Annick, Yeh Wen-Chen, Ohashi Pamela, Wang Xiaodong, Mak Tak W, ;2005;Cell;121;579-591; 15907471
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	not known

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archiving	heterozygous C57BL/6J

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal thrombocytopenia with normal platelets / Orphanet_168629

MGI phenotypes (allele matching)

decreased leukocyte cell number / MGI
absent pre-B cells / MGI
abnormal pituitary gland morphology / MGI
spleen hyperplasia / MGI
weakness / MGI
hindlimb paralysis / MGI
forebrain hypoplasia / MGI
abnormal cerebral cortex morphology / MGI
abnormal thalamus morphology / MGI
abnormal hypothalamus morphology / MGI
midbrain hyperplasia / MGI
exencephaly / MGI
cranioschisis / MGI
bidirectional circling / MGI
impaired limb coordination / MGI
thymus hypoplasia / MGI
hydroencephaly / MGI
intracerebral hemorrhage / MGI
premature death / MGI
decreased cellular sensitivity to gamma-irradiation / MGI
thymus atrophy / MGI
increased spleen weight / MGI
decreased B cell number / MGI
decreased T cell number / MGI
cachexia / MGI
perinatal lethality, incomplete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
prominent forehead / MGI

MGI phenotypes (gene matching)

decreased leukocyte cell number / MGI
absent pre-B cells / MGI
abnormal pituitary gland morphology / MGI
spleen hyperplasia / MGI
weakness / MGI
hindlimb paralysis / MGI
forebrain hypoplasia / MGI
abnormal cerebral cortex morphology / MGI
abnormal hypothalamus morphology / MGI
midbrain hyperplasia / MGI
exencephaly / MGI
cranioschisis / MGI
bidirectional circling / MGI
impaired limb coordination / MGI
abnormal apoptosis / MGI
decreased embryo size / MGI
thymus hypoplasia / MGI
hydroencephaly / MGI
intracerebral hemorrhage / MGI
premature death / MGI
abnormal extraembryonic tissue morphology / MGI
decreased cellular sensitivity to gamma-irradiation / MGI
thymus atrophy / MGI
embryonic growth retardation / MGI
increased spleen weight / MGI
decreased B cell number / MGI
decreased T cell number / MGI
cachexia / MGI
cellular phenotype / MGI
mortality/aging / MGI
abnormal cellular respiration / MGI
perinatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
small thalamus / MGI
prominent forehead / MGI

Literature references

Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis.;Hao Zhenyue, Duncan Gordon S, Chang Chia-Che, Elia Andrew, Fang Min, Wakeham Andrew, Okada Hitoshi, Calzascia Thomas, Jang YingJu, You-Ten Annick, Yeh Wen-Chen, Ohashi Pamela, Wang Xiaodong, Mak Tak W, ;2005;Cell;121;579-591; 15907471

Information on how we integrate external resources can be found here

Order

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^*

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).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6;129P2-Cycstm1Mak/Cnbc