IMPC phenotypes (gene matching)
B6;129S4-Acantm1c(EUCOMM)Hmgu/Kctt
| Status | Available to order |
| EMMA ID | EM:12392 |
| International strain name | B6;129S4-Acantm1c(EUCOMM)Hmgu/Kctt |
| Alternative name | B6(Cg)-ACANtm1c(EUCOMM)Hmgu/Jwfa |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Acantm1c(EUCOMM)Hmgu |
| Gene/Transgene symbol | Acan |
Information from provider
| Provider | Ane Charlotte Christensen |
| Provider affiliation | Department of Biosciences, University of Oslo |
| Additional owner | The ES cells are originally derived from EUCOMM. The derived mouse model is developed in collaboration as described in Rowlands et al. 2018. All parties agree to submission to repository. |
| Genetic information | Two JM8A3.N1 embryonic stem (ES) cell lines of agouti C57BL/6N origin (#HFP0602_5_G11 and #HFP0602_5_F12), carrying the targeted Acan gene were purchased from the European Mouse Mutant Cell Repository (EuMMCR). The two ES cell lines are clones containing the same transgenic cassette surrounding exon 4 of the mouse Acan gene, a general “knock-out first” design used by the EUCOMM project, termed targeted allele tm1a (Skarnes et al., 2011). ES cells were plated and prepared according to the supplier’s guidelines before microinjection into 50 blastocysts of albino C57BL/6J Tyr-/- origin and subsequent transfer to 3 pseudo-pregnant females per line. The chimeric offspring, hybrid F1 generation, was selected by appearance of coat color spots originating from transgenic cells. The F1 animals were then crossed with albino C57BL/6J Tyr-/- and transmission of genotype into G1 generation was detected by coat color and verified by PCR genotyping. The mouse was further crossed with a Gt(ROSA)26Sor-FLPe strain expressing flp recombinase, removing the majority of the transgenic cassette and leading to offspring carrying the cre-lox conditional knock-out allele tm1c of Acan, designated as B6(Cg)-Acantm1c(EUCOMM)Hmgu/Jwfa. The tm1c allele is viable as a homozygote. Conditional knock-out of Acan is achieved by removing exon 4 of the Acan gene by cre-lox recombination resulting in the tm1d allele. Loss of exon 4 induces a shift in the reading frame, and thereby prevents protein translation. |
| Phenotypic information | Homozygous:Viable, normal phenotypeHeterozygous:Viable, normal phenotype |
| Breeding history | C57BL/6N-Atm1Brd ES cells bearing Acantm1a(EUCOMM)Hmgu were used to produce chimeric mice that were then crossed with B6(Cg)-Tyrc-2J/J mice (per JAX Mice, on a C57BL/6J background), whose offspring were crossed to 129S4/SvJaeSor-Gt(ROSA)26Sortm1(FLP1)Dym/J or 129S4/SvJaeSor-Gt(ROSA)26Sortm2(FLP*)Sor/J mice and later to B6.Cg-Tg(Nes-cre)1Kln/J (N10 to C57BL/6J) and one cross each to C57BL/6J and C57BL/6JR. The final strain is ~90% C57BL/6J, ~3% C57BL/6N, and ~6% 129S4/SvJaeSor. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Short stature-advanced bone age-early-onset osteoarthritis syndrome / Orphanet_435804
- Familial osteochondritis dissecans / Orphanet_251262
- Spondyloepiphyseal dysplasia, Kimberley type / Orphanet_93283
- Spondyloepimetaphyseal dysplasia, aggrecan type / Orphanet_171866
MGI phenotypes (gene matching)
- abnormal organ of Corti morphology / MGI
- cleft palate / MGI
- abnormal trabecular bone morphology / MGI
- abnormal vertebrae morphology / MGI
- abnormal vertebral body morphology / MGI
- abnormal rib morphology / MGI
- kyphosis / MGI
- lordosis / MGI
- abnormal cartilage development / MGI
- abnormal chondrocyte morphology / MGI
- short snout / MGI
- flattened snout / MGI
- short limbs / MGI
- abnormal liver morphology / MGI
- enlarged liver / MGI
- abnormal spinal cord morphology / MGI
- abnormal lung morphology / MGI
- pulmonary hypoplasia / MGI
- obese / MGI
- distended abdomen / MGI
- abnormal gait / MGI
- aphagia / MGI
- cardiac hypertrophy / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- deafness / MGI
- premature death / MGI
- abnormal limb morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- disproportionate dwarf / MGI
- brachydactyly / MGI
- brachypodia / MGI
- abnormal joint morphology / MGI
- short femur / MGI
- abnormal tracheal cartilage morphology / MGI
- decreased susceptibility to induced arthritis / MGI
- polyhydramnios / MGI
- abnormal intervertebral disk morphology / MGI
- short humerus / MGI
- abnormal cochlear inner hair cell morphology / MGI
- absent cochlear outer hair cells / MGI
- absent caudal vertebrae / MGI
- intervertebral disk degeneration / MGI
- decreased length of long bones / MGI
- short vertebral column / MGI
- small thoracic cavity / MGI
- abnormal cochlear IHC afferent innervation pattern / MGI
- cardiomyopathy / MGI
- abnormal limb development / MGI
- protruding tongue / MGI
- neonatal lethality, complete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- short basicranium / MGI
Literature references
- Aggrecan Directs Extracellular Matrix-Mediated Neuronal Plasticity.;Rowlands Daire, Lensjø Kristian K, Dinh Tovy, Yang Sujeong, Andrews Melissa R, Hafting Torkel, Fyhn Marianne, Fawcett James W, Dick Gunnar, ;2018;The Journal of neuroscience : the official journal of the Society for Neuroscience;38;10102-10113; 30282728