ENSMUSG00000031349


Mus musculus

Features
Gene ID: ENSMUSG00000031349
  
Biological name :Nsdhl
  
Synonyms : Nsdhl / Q9R1J0 / Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
  
Possible biological names infered from orthology : NAD(P) dependent steroid dehydrogenase-like / Q15738
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.3
Gene start: 72918557
Gene end: 72958514
  
Corresponding Affymetrix probe sets: 10600082 (MoGene1.0st)   1416222_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033715
NCBI entrez gene - 18194     See in Manteia.
MGI - MGI:1099438
RefSeq - NM_010941
RefSeq Peptide - NP_035071
swissprot - Q3US15
swissprot - Q9R1J0
Ensembl - ENSMUSG00000031349
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nsdhlENSDARG00000099315Danio rerio
 NSDHLENSGALG00000007493Gallus gallus
 NSDHLENSG00000147383Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9D665 / Sdr42e1 / short chain dehydrogenase/reductase family 42E, member 1 / Q8WUS8*ENSMUSG0000003430831
Hsd3b7 / Q9EQC1 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 / Q9H2F3*ENSMUSG0000004228929
Gm5737 / short chain dehydrogenase/reductase family 42E, member 2 / A6NKP2* / SDR42E2*ENSMUSG0000010939228
P26149 / Hsd3b2 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 / P14060* / HSD3B1* / P26439* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid del...ENSMUSG0000006373028
O35469 / Hsd3b6 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 / P26439* / HSD3B1* / HSD3B2* / P14060* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and s...ENSMUSG0000002786928
P26150 / Hsd3b3 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 / P26439* / HSD3B1* / HSD3B2* / P14060* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and s...ENSMUSG0000006241027
Hsd3b1 / P24815 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 / P26439* / HSD3B2* / P14060* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid del...ENSMUSG0000002787126
Q61767 / Hsd3b4 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 4 / HSD3B1* / P14060* / P26439* / HSD3B2* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and s...ENSMUSG0000009514325
Q61767 / Gm10681 / predicted gene 10681 / HSD3B1* / P26439* / P14060* / HSD3B2* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2* / hydroxy-delta-5-steroid deh...ENSMUSG0000009538825
Q61694 / Hsd3b5 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 / HSD3B1* / P14060* / P26439* / HSD3B2* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and s...ENSMUSG0000003809224
Gm4450 / HSD3B2* / P26439* / HSD3B1* / P14060* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1* / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid d...ENSMUSG0000009081714


Protein motifs (from Interpro)
Interpro ID Name
 IPR002225  3-beta hydroxysteroid dehydrogenase/isomerase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process IEA
 biological_processGO:0007224 smoothened signaling pathway IGI
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IMP
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060716 labyrinthine layer blood vessel development IMP
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005811 lipid droplet IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA
 molecular_functionGO:0103066 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity IEA
 molecular_functionGO:0103067 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlStr-1Or/Nsdhl+
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0000372 irregular coat pigmentation "uneven coloration of the hair" [J:65030]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlStr-1Or/Nsdhl+
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: NsdhlStr-2H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-6H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000397 abnormal guard hair "anomalies of truncal hairs that contain two air cells in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: NsdhlStr-1H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000405 abnormal auchene hairs "anomalies of truncal hairs that contain two or more air cells in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: NsdhlStr-1H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlBpa-7H/Nsdhl+
Genetic Background: Not Specified

Allelic Composition: NsdhlBpa-4H/Nsdhl+
Genetic Background: Not Specified

 MP:0000417 short hair "reduced average length of the hairs" [J:64948]
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Allelic Composition: NsdhlStr-1H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-6H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0000873 thin external granule cell layer "reduced thickness of the transient layer of the cerebellar cortex which is composed of dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0001191 abnormal skin condition "anomalous state of the skin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlBpa-7H/Nsdhl+
Genetic Background: Not Specified

Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlBpa-7H/Nsdhl+
Genetic Background: Not Specified

Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-6H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Nsdhltm1.1Hrm/Nsdhl+,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Nsdhltm1.1Hrm/Nsdhl+,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001716 abnormal placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [J:23171]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nsdhltm1.1Hrm/Nsdhl+,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otud5tm1Vmd/Otud5tm1Vmd,Tg(Vav1-cre)#Cgp/0
Genetic Background: involves: C57BL/6

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: NsdhlBpa-8H/Nsdhl+
Genetic Background: involves: BALB/c * C3H/HeN

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0002111 abnormal tail morphology "abnormal development of the tail resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0002544 brachydactyly "abnormally short digits" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0002940 variable body spotting "the appearance of patches of white fur at random on the coat" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: NsdhlStr-1Or/Nsdhl+
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: NsdhlStr-2H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0003417 premature endochondral bone ossification "early onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0003809 abnormal hair shaft morphology "irregular or unusual structure of the cuticle, and/or cortex and/or medulla of a hair" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0004098 abnormal granule neuron "any structural anomaly of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0004259 small placenta "reduced size of the size or shape of the organ of metabolic interchange between fetus and mother" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlStr-1Or/Y
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-4H/Nsdhl+
Genetic Background: Not Specified

 MP:0004704 short vertebral column "decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: NsdhlBpa-3H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-5H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-6H/Nsdhl+
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Nsdhltm1.1Hrm/Nsdhl+,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0006253 clinodactyly "abnormal lateral curvature of one or more digits towards or away from each other" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:98519]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0008924 decreased granule neuron number "reduction in the number of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0009938 abnormal hippocampus granule cell morphology "any structural anomaly of the small neurons of the hippocampal granule cell layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0009939 abnormal hippocampus neuron morphology 
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0010387 abnormal Bergmann glial cell morphology "any structural anomaly of one or more astrocyte-type glia cells associated with Purkinje cells in the cerebellum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1Or/Y
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: NsdhlStr-1Or/NsdhlStr-1Or
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: NsdhlBpa-3H/Y
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-4H/Y
Genetic Background: Not Specified

Allelic Composition: NsdhlBpa-5H/Y
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlBpa-6H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: NsdhlStr-1Or/Y
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: NsdhlStr-2H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011523 thin placenta labyrinth "decrease in the width of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0011527 disorganized placental labyrinth "derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [MGI:csmith]
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Allelic Composition: Bmp5se/Bmp5se
Genetic Background: Ab/Gn

Allelic Composition: NsdhlBpa-8H/Y
Genetic Background: involves: BALB/c * C3H/HeN

Allelic Composition: NsdhlStr-1H/Y
Genetic Background: involves: 101/H * C3H/HeH

 MP:0012204 abnormal neuronal stem cell physiology "any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors" [CL:0000047]
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Allelic Composition: Nsdhltm1.1Hrm/Y,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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