Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | Notes | References

Symbol: Leprdb Name: leptin receptor; diabetes MGI ID: MGI:1856009 Synonyms: db, db/db, Lepdb, Lepr-, leprdb, Leprdb-1J Gene: Lepr  Location: Chr4:101574601-101672549 bp, + strand  Genetic Position: Chr4, 46.96 cM Alliance: Leprdb page

Increased beta cell mass in Leprdb/Leprdb mice and Leprdb/Leprdb Cebpbtm1.1Maka/Cebpbtm1.1Maka Tg(Ins2-cre)23Herr/0 mice Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

C57BLKS/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: An intronic G-to-T transversion in this allele created a donor splice site that causes abnormal splicing and the inclusion of 106 nt of intronic sequence in the transcript, leading to premature termination of the long cellular domain of the Ob-Rb splice form and loss of its signal transducing function. (J:31324, J:31327, J:31488) Inheritance:    Recessive

Key:	hm homozygous ht heterozygous tg involves transgenes √ phenotype observed cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/ Background:	Allelic Composition Genetic Background Cell Line(s) Allelic Composition Genetic Background Cell Line(s) Loading... hm1 Leprdb/Leprdb B6.BKS(D)-Leprdb/J   hm2  Disease Model Leprdb/Leprdb B6.BKS(D)-Leprdb/JOrlRj   hm3  Disease Model Leprdb/Leprdb B6.Cg-Dock7m +/+ Leprdb/J   hm4  Disease Model Leprdb/Leprdb B6NTac.BKS(D)-Leprdb   hm5  Disease Model Leprdb/Leprdb BKS.Cg-Dock7m +/+ Leprdb   hm6  Disease Model Leprdb/Leprdb BKS.Cg-Dock7m +/+ Leprdb/J   hm7 Leprdb/Leprdb BKS.Cg-Dock7m +/+ Leprdb/Jcl   hm8 Leprdb/Leprdb BKS.Cg-Dock7m +/+ Leprdb/OlaHsd   hm9 Leprdb/Leprdb BKS(D)-Leprdb/JOrlRj   hm10  Disease Model Leprdb/Leprdb FVB.BKS-Leprdb   hm11 Leprdb/Leprdb involves: 129S2/SvPas * C57BL/6 * C57BLKS/J   hm12 Leprdb/Leprdb involves: C57BL/6   hm13 Leprdb/Leprdb involves: C57BL/6 * C57BLKS/J   hm14  Disease Model Leprdb/Leprdb involves: C57BLKS/J   ht15 Leprdb/Lepr+ B6.Cg-Dock7m +/+ Leprdb/J   ht16 Leprdb/Lepr+ involves: C57BLKS/J   ht17  Disease Model Leprdb/Leprdb-Nokl B6NTac.Cg-Leprdb Leprdb-Nokl   ht18 Leprdb/Leprdb-5J involves: C57BLKS/J * NOD/ShiLtJ   cn19 Jamltm1Fnyi/Jamltm1Fnyi Leprdb/Leprdb Tg(NPHS2-cre)295Lbh/0 B6.Cg-Leprdb Jamltm1Fnyi Tg(NPHS2-cre)295Lbh   cn20 Jamltm1Fnyi/Jaml+ Leprdb/Leprdb Tg(NPHS2-cre)295Lbh/0 B6.Cg-Leprdb Jamltm1Fnyi Tg(NPHS2-cre)295Lbh   cn21 Cebpbtm1.1Maka/Cebpbtm1.1Maka Leprdb/Leprdb Tg(Ins2-cre)23Herr/0 involves: 129P2/OlaHsd * C57BL/6J * C57BLKS/J * CBA/J   cn22 Leprdb/Leprdb Ptentm1Hwu/Ptentm1Hwu Tg(Ins2-cre)25Mgn/0 involves: 129S4/SvJae * C57BL/6 * C57BLKS/J * DBA   cx23 Foxo1tm2.1Dac/Foxo1tm2.1Dac Leprdb/Leprdb B6.Cg-Foxo1tm2.1Dac Leprdb   cx24 Dock7m/Dock7+ Leprdb/Lepr+ BKS.Cg-Dock7m +/+ Leprdb/J   cx25  Disease Model Leprdb/Leprdb Nos3tm1Unc/Nos3tm1Unc BKS.Cg-Leprdb Nos3tm1Unc   cx26 Apoetm1Unc/Apoetm1Unc Leprdb/Leprdb involves: 129P2/OlaHsd * C57BLKS/J   cx27 Gdf15tm1Sjl/Gdf15tm1Sjl Leprdb/Leprdb involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BLKS/J   cx28 Leprdb/Leprdb Plin1tm1Chan/Plin1tm1Chan involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BLKS/J   cx29 Aqp9tm1Nlsn/Aqp9tm1Nlsn Leprdb/Leprdb involves: 129S1/Sv * C57BL/6 * C57BLKS/J   cx30 Leprdb/Leprdb Serpine1tm1Mlg/Serpine1tm1Mlg involves: 129S2/SvPas * C57BL/6 * C57BLKS/J   cx31 Leprdb/Leprdb Rock1tm1Leiw/Rock1tm1Leiw involves: 129S7/SvEvBrd * C57BLKS/J * FVB/N   cx32 Leprdb/Leprdb Repin1tm1.2Arte/Repin1tm1.2Arte involves: BALB/c * C57BL/6 * C57BLKS/J   cx33  Disease Model Leprdb/Lepr+ Tg(APPswe,PSEN1dE9)85Dbo/0 involves: C3H * C57BL/6 * C57BLKS/J   cx34 Dbsq2C3H/HeJ/Dbsq2C3H/HeJ Leprdb/Lepr+ involves: C3H/HeJ * C57BLKS   cx35 Dbsq2C57BLKS/J/Dbsq2C3H/HeJ Leprdb/Lepr+ involves: C3H/HeJ * C57BLKS   cx36 Dbsq3C57BLKS/J/Dbsq3C3H/HeJ Leprdb/Lepr+ involves: C3H/HeJ * C57BLKS   cx37 Dbsq1C57BLKS/J/Dbsq1C3H/HeJ Leprdb/Leprdb involves: C3H/HeJ * C57BLKS   cx38 Dbsq1C57BLKS/J/Dbsq1C57BLKS/J Leprdb/Leprdb involves: C3H/HeJ * C57BLKS   cx39 Dbsq3C3H/HeJ/Dbsq3C3H/HeJ Leprdb/Lepr+ involves: C3H/HeJ * C57BLKS   cx40 Ccr2tm1.1(CCR2)Rodb/Ccr2tm1.1(CCR2)Rodb Leprdb/Leprdb involves: C57BL/6 * C57BLKS/J   cx41 Helz2tm1Tesa/Helz2tm1Tesa Leprdb/Leprdb involves: C57BL/6 * C57BLKS/J   cx42  Disease Model Leprdb/Leprdb Tg(SHBG)4-aGlha/0 involves: C57BL/6 * C57BLKS/J * CBA   cx43 Leprdb/Leprdb Tg(Fabp4-Fcor)1Jnak/0 involves: C57BL/6 * C57BLKS/J * DBA/2   cx44 Cdkn1btm1Kin/Cdkn1b+ Leprdb/Leprdb involves: C57BL/6J * C57BLKS/J   cx45 Cdkn1btm1Kin/Cdkn1btm1Kin Leprdb/Leprdb involves: C57BL/6J * C57BLKS/J
Phenotypes:	Affected Systems hm1 hm2 hm3 hm4 hm5 hm6 hm7 hm8 hm9 hm10 hm11 hm12 hm13 hm14 ht15 ht16 ht17 ht18 cn19 cn20 cn21 cn22 cx23 cx24 cx25 cx26 cx27 cx28 cx29 cx30 cx31 cx32 cx33 cx34 cx35 cx36 cx37 cx38 cx39 cx40 cx41 cx42 cx43 cx44 cx45 show or hide all annotated terms Sex:                                                                           adipose tissue √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ abnormal adipose tissue morphology √ √ √ √ decreased abdominal adipose tissue amount √ increased total body fat amount √ √ √ decreased body fat mass √ increased body fat mass √ √ √ √ abnormal fat pad morphology √ √ abnormal epididymal fat pad morphology √ increased gonadal fat pad weight √ √ √ √ increased percent body fat/body weight √ √ abnormal white adipose tissue morphology √ √ increased subcutaneous adipose tissue amount √ √ √ √ decreased white fat cell size √ increased white fat cell size √ √ √ √ abnormal adipose tissue physiology √ behavior/neurological √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ abnormal behavior √ abnormal learning/memory/conditioning √ abnormal conditioned taste aversion behavior √ √ abnormal spatial learning √ abnormal spatial reference memory √ increased fluid intake √ polydipsia √ √ √ abnormal eating behavior √ √ abnormal food intake √ increased food intake √ √ √ √ √ √ polyphagia √ √ √ √ √ √ √ √ abnormal locomotor circadian rhythm √ √ √ √ √ decreased locomotor activity √ √ √ √ √ √ √ decreased male mating frequency √ cardiovascular system √ √ √ √ √ √ √ √ abnormal aorta morphology √ abnormal kidney afferent arteriole morphology √ abnormal retina vasculature morphology √ abnormal vascular development √ abnormal myocardium layer morphology √ √ abnormal myocardial fiber morphology √ √ √ heart left ventricle hypertrophy √ √ increased heart weight √ abnormal cardiovascular system physiology √ √ abnormal blood circulation √ √ decreased cardiac output √ √ cardiac ischemia √ √ decreased cardiac muscle contractility √ √ increased left ventricle diastolic pressure √ √ decreased heart rate √ √ abnormal response to cardiac infarction √ √ decreased systemic arterial blood pressure √ √ decreased systemic arterial systolic blood pressure √ √ increased systemic arterial systolic blood pressure √ increased vasoconstriction √ √ abnormal vascular wound healing √ √ cellular √ √ √ √ √ √ √ √ √ √ increased renal glomerulus apoptosis √ abnormal pancreatic islet cell apoptosis √ increased pancreatic islet cell apoptosis √ increased hepatocyte apoptosis √ abnormal axon extension √ abnormal osteoclast differentiation √ abnormal aerobic respiration √ √ abnormal mitochondrial physiology √ abnormal respiratory electron transport chain √ √ oxidative stress √ maternal effect √ √ digestive/alimentary system √ abnormal intestinal epithelium morphology √ abnormal digestive system physiology √ embryo √ √ enlarged placenta √ √ endocrine/exocrine glands √ √ √ √ √ √ √ √ √ √ abnormal pancreatic islet morphology √ √ √ √ √ abnormal pancreatic beta cell morphology √ √ increased pancreatic beta cell mass √ √ √ increased pancreatic beta cell number √ √ √ pancreatic islet hyperplasia √ abnormal pancreas physiology √ abnormal pancreatic islet cell apoptosis √ increased pancreatic islet cell apoptosis √ increased glucagon secretion √ abnormal pancreatic beta cell physiology √ √ increased insulin secretion √ growth/size/body √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ N √ √ N √ √ √ √ √ growth/size/body region phenotype N N decreased body fat mass √ increased body fat mass √ √ √ √ heart left ventricle hypertrophy √ √ increased heart weight √ increased birth weight √ √ decreased lean body mass √ √ decreased susceptibility to age related obesity √ increased susceptibility to weight gain √ √ increased susceptibility to diet-induced obesity √ decreased body size √ decreased body weight √ √ weight loss √ decreased body length √ √ √ √ √ √ increased body size √ increased body weight √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ obese √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ enlarged kidney √ √ increased kidney weight √ √ √ √ √ √ increased liver weight √ √ √ √ √ hematopoietic system √ √ √ √ √ √ √ √ √ increased glycosylated hemoglobin level √ √ √ √ √ √ abnormal leukocyte morphology √ √ abnormal osteoclast differentiation √ increased neutrophil cell number √ √ decreased leukocyte cell number √ √ homeostasis/metabolism √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ homeostasis/metabolism phenotype N N N N N abnormal response to cardiac infarction √ √ abnormal vascular wound healing √ √ increased susceptibility to diet-induced obesity √ amyloidosis √ impaired adaptive thermogenesis √ √ √ √ abnormal blood homeostasis √ √ increased glycosylated hemoglobin level √ √ √ √ √ √ increased circulating creatinine level √ √ √ increased blood urea nitrogen level √ √ increased circulating ketone body level √ abnormal circulating lipid level √ √ √ increased circulating corticosterone level √ √ abnormal circulating cholesterol level √ √ √ √ increased circulating cholesterol level √ √ √ √ √ √ √ √ √ √ √ √ increased circulating HDL cholesterol level √ √ √ √ √ √ √ √ increased circulating LDL cholesterol level √ √ √ √ √ √ √ increased circulating VLDL cholesterol level √ √ √ increased circulating free fatty acids level √ √ √ √ increased circulating glycerol level √ decreased circulating triglyceride level √ increased circulating triglyceride level √ √ √ √ √ √ √ √ √ √ √ √ hyperlipidemia √ √ √ √ decreased body temperature √ √ √ √ √ decreased core body temperature √ √ abnormal carbon dioxide production √ √ √ √ decreased carbon dioxide production √ abnormal oxygen consumption √ √ √ √ √ √ decreased oxygen consumption √ increased oxygen consumption √ √ abnormal glucose homeostasis √ √ √ √ √ √ increased glucagon secretion √ increased insulin secretion √ abnormal circulating glucose level √ √ decreased circulating glucose level √ √ √ √ √ increased circulating glucose level √ √ √ √ √ √ √ √ √ √ √ increased fasting circulating glucose level √ √ hyperglycemia √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ impaired glucose tolerance √ √ √ √ √ √ √ √ √ √ √ √ √ √ improved glucose tolerance √ √ increased urine glucose level √ increased insulin sensitivity √ √ insulin resistance √ √ √ √ √ √ √ √ abnormal hormone level √ √ √ increased circulating testosterone level √ abnormal circulating insulin level √ decreased circulating insulin level √ √ √ √ increased circulating insulin level √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ increased circulating leptin level √ √ √ √ √ √ √ √ √ √ √ √ √ √ decreased circulating adiponectin level √ √ √ increased cholesterol level √ √ decreased prostaglandin level √ increased liver triglyceride level √ √ √ √ √ √ abnormal chemokine level √ √ abnormal interleukin level √ √ increased circulating interleukin-6 level √ √ decreased response to leptin √ √ increased susceptibility to diet-induced non-insulin dependent diabetes √ √ √ √ abnormal urine protein level √ decreased urine albumin level √ increased urine protein level √ √ √ √ albuminuria √ √ √ √ √ abnormal enzyme/coenzyme activity √ √ abnormal nucleotide metabolism √ √ abnormal peptide metabolism √ √ √ √ abnormal response/metabolism to endogenous compounds √ delayed wound healing √ immune system √ √ √ √ √ √ √ √ abnormal leukocyte morphology √ √ abnormal osteoclast differentiation √ increased neutrophil cell number √ √ decreased leukocyte cell number √ √ abnormal chemokine level √ √ abnormal interleukin level √ √ increased circulating interleukin-6 level √ √ abnormal chemokine secretion √ increased interleukin-6 secretion √ increased susceptibility to autoimmune diabetes √ √ abnormal acute inflammation √ increased susceptibility to endotoxin shock √ liver inflammation √ √ kidney inflammation √ lung inflammation √ √ integument √ √ √ √ increased subcutaneous adipose tissue amount √ √ √ √ limbs/digits/tail √ √ √ √ √ √ short femur √ √ short tail √ √ √ √ liver/biliary system √ √ √ √ √ √ √ √ √ √ √ √ increased hepatocyte apoptosis √ increased liver weight √ √ √ √ √ increased liver triglyceride level √ √ √ √ √ √ liver inflammation √ √ hepatic steatosis √ √ √ macrovesicular hepatic steatosis √ √ microvesicular hepatic steatosis √ √ increased susceptibility to diet-induced hepatic steatosis √ √ √ √ liver fibrosis √ mortality/aging √ √ √ √ √ increased susceptibility to induced morbidity/mortality √ √ extended life span √ √ premature death √ muscle √ √ √ √ √ abnormal myocardium layer morphology √ √ abnormal myocardial fiber morphology √ √ √ heart left ventricle hypertrophy √ √ decreased cardiac muscle contractility √ √ increased vasoconstriction √ √ neoplasm √ √ increased metastatic potential √ √ nervous system √ √ √ √ √ abnormal nervous system morphology √ abnormal axon extension √ decreased motor neuron number √ abnormal axon morphology √ abnormal myelin sheath morphology √ abnormal hypothalamus physiology √ √ √ √ abnormal nerve conduction √ abnormal CNS synaptic transmission √ reduced long-term potentiation √ absent long-term depression √ renal/urinary system √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ √ renal/urinary system phenotype N increased renal glomerulus apoptosis √ increased urine glucose level √ abnormal urine protein level √ decreased urine albumin level √ increased urine protein level √ √ √ √ albuminuria √ √ √ √ √ kidney inflammation √ abnormal kidney morphology √ √ √ enlarged kidney √ √ increased kidney weight √ √ √ √ √ √ abnormal kidney papilla morphology √ √ abnormal kidney calyx morphology √ √ abnormal nephron morphology √ abnormal kidney afferent arteriole morphology √ increased glomerular capsule space √ abnormal podocyte morphology √ √ √ increased renal glomerulus basement membrane thickness √ √ abnormal renal glomerulus morphology √ √ √ √ √ √ √ abnormal glomerular mesangium morphology √ expanded mesangial matrix √ √ √ √ √ √ mesangiolysis √ glomerulosclerosis √ √ √ √ renal glomerular protein deposits √ √ renal glomerular immunoglobulin deposits √ √ renal glomerulus fibrosis √ renal glomerulus hypertrophy √ renal glomerulus lipidosis √ renal fibrosis √ increased creatinine clearance √ decreased renal glomerular filtration rate √ polyuria √ √ √ reproductive system √ √ √ √ abnormal female reproductive system morphology √ √ abnormal uterus morphology √ abnormal endometrium morphology √ small uterus √ decreased uterus weight √ constricted vagina orifice √ anovulation √ absent estrus √ √ absent estrous cycle √ √ √ female infertility √ √ respiratory system √ √ lung inflammation √ √ abnormal functional residual capacity √ √ abnormal respiratory mechanics √ √ abnormal lung compliance √ √ decreased pulmonary ventilation √ √ skeleton √ √ √ short femur √ √ increased bone volume √ abnormal skeleton development √ abnormal osteoclast differentiation √ vision/eye √ √ √ √ abnormal retina morphology √ abnormal retina vasculature morphology √ abnormal eye electrophysiology √ abnormal intraocular pressure √ √