Lepr<db> Spontaneous Allele Detail MGI Mouse (MGI:1856009)

Lepr^db
Spontaneous Allele Detail

Nomenclature

Symbol:	Lepr^db
Name:	leptin receptor; diabetes
MGI ID:	MGI:1856009
Synonyms:	db, Lep^db, Lepr-, Lepr^db-1J, leprdb
Gene:	Lepr Location: Chr4:101390009-101487957 bp, + strand Genetic Position: Chr4, 46.7 cM

Neural-specific STAT3 deletion results in severe obesity in Stat3^tm1Flv/Stat3^tm1Flv Tg(Nes-cre)1Kln/0 mice similar to that seen in Lepr^db/Lepr^db mice

Show the 1 image(s) involving this allele.

Mutation
origin

Strain of Origin:

C57BLKS/J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A G-to-T transversion in this allele created a donor splice site that causes abnormal splicing and a 106 nt insertion 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

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 9 strains available Cell Lines: 0 lines available
Carrying any Lepr Mutation:	21 strains or lines available

Expression

In Mice Carrying this Mutation:

53 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems

Genotypes:

adipose tissue

√

behavior/neurological

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cardiovascular system

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cellular

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digestive/alimentary system

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endocrine/exocrine glands

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growth/size

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hematopoietic system

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homeostasis/metabolism

√

immune system

√

life span/aging

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liver/biliary system

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muscle

√

nervous system

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other phenotype

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renal/urinary system

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reproductive system

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respiratory system

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skeleton

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tumorigenesis

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vision/eye

√

Disease Models

√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1 Disease Model

Lepr^db/Lepr^db

B6.Cg-Dock7^m +/+ Lepr^db/J

hm2 Disease Model

Lepr^db/Lepr^db

BKS.Cg-Dock7^m +/+ Lepr^db/J

hm3

Lepr^db/Lepr^db

BKS.Cg-Dock7^m +/+ Lepr^db/OlaHsd

C57BLKS/J

FVB.BKS-Lepr^db

hm6

Lepr^db/Lepr^db

involves: 129S2/SvPas * C57BL/6 * C57BLKS/J

hm7

Lepr^db/Lepr^db

involves: C57BL/6

hm8

Lepr^db/Lepr^db

involves: C57BL/6 * C57BLKS/J

hm9

Lepr^db/Lepr^db

involves: C57BLKS/J

ht10

Lepr^db/Lepr⁺

B6.Cg-Dock7^m +/+ Lepr^db/J

ht11

Lepr^db/Lepr⁺

BKS.Cg-Dock7^m +/+ Lepr^db/J

ht12

Lepr^db/Lepr⁺

involves: C57BLKS/J

ht13

Lepr^db/Lepr^db-5J

involves: C57BLKS/J * NOD/ShiLtJ

cx14

Lepr^db/Lepr^db
Nos3^tm1Unc/Nos3^tm1Unc

BKS.Cg-Lepr^db Nos3^tm1Unc

cx15

Apoe^tm1Unc/Apoe^tm1Unc
Lepr^db/Lepr^db

involves: 129P2/OlaHsd * C57BLKS/J

cx16

Lepr^db/Lepr^db
Plin1^tm1Chan/Plin1^tm1Chan

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BLKS/J

cx17

Aqp9^tm1Nlsn/Aqp9^tm1Nlsn
Lepr^db/Lepr^db

involves: 129S1/Sv * C57BL/6 * C57BLKS/J

cx18

Lepr^db/Lepr^db
Serpine1^tm1Mlg/Serpine1^tm1Mlg

involves: 129S2/SvPas * C57BL/6 * C57BLKS/J

cx19

Dbsq1^BKS/Dbsq1^BKS
Lepr^db/Lepr^db

involves: C3H/HeJ * C57BLKS

cx20

Dbsq1^BKS/Dbsq1^C3H/HeJ
Lepr^db/Lepr^db

involves: C3H/HeJ * C57BLKS

cx21

Dbsq2^C3H/HeJ/Dbsq2^C3H/HeJ
Lepr^db/Lepr⁺

involves: C3H/HeJ * C57BLKS

cx22

Dbsq2^BKS/Dbsq2^C3H/HeJ
Lepr^db/Lepr⁺

involves: C3H/HeJ * C57BLKS

cx23

Dbsq3^C3H/HeJ/Dbsq3^C3H/HeJ
Lepr^db/Lepr⁺

involves: C3H/HeJ * C57BLKS

cx24

Dbsq3^BKS/Dbsq3^C3H/HeJ
Lepr^db/Lepr⁺

involves: C3H/HeJ * C57BLKS

cx25

Cdkn1b^tm1Kin/Cdkn1b^tm1Kin
Lepr^db/Lepr^db

involves: C57BL/6J * C57BLKS/J

cx26

Cdkn1b^tm1Kin/Cdkn1b⁺
Lepr^db/Lepr^db

involves: C57BL/6J * C57BLKS/J

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
Mouse Models of Human Disease	Note		Allelic Composition	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases not associated with human LEPR.
Diabetes Mellitus, Noninsulin-Dependent; NIDDM OMIM ID: 125853		hm4	Lepr^db/Lepr^db	C57BLKS/J	J:104790
Obesity OMIM ID: 601665		hm1	Lepr^db/Lepr^db	B6.Cg-Dock7^m +/+ Lepr^db/J	J:103063, J:18161, J:82234
		hm4	Lepr^db/Lepr^db	C57BLKS/J	J:104790, J:106871, J:96047
		hm2	Lepr^db/Lepr^db	BKS.Cg-Dock7^m +/+ Lepr^db/J	J:6323
		hm5	Lepr^db/Lepr^db	FVB.BKS-Lepr^db	J:78850

References

Original:	J:5010 Hummel KP et al., "Diabetes, a new mutation in the mouse." Science 1966 Sep 2;153(740):1127-8
All:	412 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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