MGI phenotypes (allele matching)
C3H101H-NsdhlBpa-8H/H
| Status | Available to order |
| EMMA ID | EM:01943 |
| 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 |
|
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