MGI phenotypes (allele matching)
C3H101H-NsdhlBpa-8H/H
| Status | Available to order |
| EMMA ID | EM:01943 |
| Citation information | RRID:IMSR_EM:01943 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C3H101H-NsdhlBpa-8H/H |
| Alternative name | Nsdhl |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | NsdhlBpa-8H |
| Gene/Transgene symbol | Nsdhl |
Information from provider
| Provider | Jo Peters |
| Provider affiliation | Institute of Hearing Research, MRC (Medical Research Council) |
| Phenotypic information | Anaemia in females at birth to 2 days. Scarring on skin of females at 8 days. Small at weaning. Adult female is striped. Pre-natal lethal in males. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- CK syndrome / Orphanet_251383
- CHILD syndrome / Orphanet_139
MGI phenotypes (gene matching)
- abnormal coat/ hair morphology / MGI
- irregular coat pigmentation / MGI
- abnormal guard hair morphology / MGI
- abnormal auchene hair morphology / MGI
- alopecia / MGI
- short hair / MGI
- focal hair loss / MGI
- short limbs / MGI
- abnormal autopod morphology / MGI
- kinked tail / MGI
- short tail / MGI
- abnormal skin condition / MGI
- hyperkeratosis / MGI
- decreased body weight / MGI
- decreased body size / MGI
- cataract / MGI
- abnormal maternal nurturing / MGI
- disheveled coat / MGI
- abnormal limb morphology / MGI
- abnormal digit morphology / MGI
- abnormal tail morphology / MGI
- brachydactyly / MGI
- variable body spotting / MGI
- premature endochondral bone ossification / MGI
- abnormal hair shaft morphology / MGI
- abnormal vertebral column morphology / MGI
- short vertebral column / MGI
- abnormal skeleton morphology / MGI
- clinodactyly / MGI
- mortality/aging / MGI
- postnatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / 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
- Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.;Lucas Marsha E, Ma Qi, Cunningham David, Peters Jo, Cattanach Bruce, Bard Martin, Elmore Bradley K, Herman Gail E, ;2003;Molecular genetics and metabolism;80;227-33; 14567972