All Phenotypes Tg(Pgk1-cre)1Lni MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Pgk1-cre)1Lni
transgene insertion 1, Peter Lonai
MGI:2178050

Summary

28 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm1(GRN)Pvd/Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(Pgk1-cre)1Lni/0 Tg(SOD1*G93A)1Gur/0	B6J.Cg-Tg(Pgk1-cre)1Lni Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(SOD1*G93A)1Gur	MGI:5637746
cn2	Gt(ROSA)26Sor^tm1(GRN)Pvd/Gt(ROSA)26Sor⁺ Tg(Pgk1-cre)1Lni/0 Tg(SOD1*G93A)1Gur/0	B6J.Cg-Tg(Pgk1-cre)1Lni Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(SOD1*G93A)1Gur	MGI:5637745
cn3	Fgf10^tm1Wss/Fgf10⁺ Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0	involves: 129 * 129X1/SvJ * BALB/c * C57BL/6	MGI:3775807
cn4	Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0	involves: 129 * 129X1/SvJ * BALB/c * C57BL/6	MGI:3775811
cn5	Fbxw7^tm1Itom/Fbxw7⁺ Tg(Pgk1-cre)1Lni/0	involves: 129 * BALB/c * C57BL/6 * C57BL/6J	MGI:5007621
cn6	Kdm6a^{tm1a(EUCOMM)Jhha}/Y Tg(Pgk1-cre)1Lni/0	involves: 129 * BALB/c * C57BL/6 * DBA	MGI:5438706
cn7	Kdm6a^{tm1a(EUCOMM)Jhha}/Kdm6a^{tm1b(EUCOMM)Jhha} Tg(Pgk1-cre)1Lni/0	involves: 129 * BALB/c * C57BL/6 * DBA	MGI:5438707
cn8	Slc18b1^tm1.1Ubc/Slc18b1^tm1.1Ubc Tg(Pgk1-cre)1Lni/0	involves: 129 * BALB/c * C57BL/6 * SJL	MGI:6383821
cn9	Anxa8^tm1Resc/Anxa8^tm1Resc Tg(Pgk1-cre)1Lni/0	involves: 129 * C57BL/6J * BALB/c	MGI:5705287
cn10	Flrt3^tm2Kln/Flrt3^tm3Kln Tg(Pgk1-cre)1Lni/0	involves: 129P2/OlaHsd * 129S/SvEv * BALB/c * C57BL/6	MGI:5495542
cn11	Efnb1^tm1Rha/Efnb1⁺ Tg(Pgk1-cre)1Lni/?	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3713241
cn12	Efnb1^tm1Rha/Y Tg(Pgk1-cre)1Lni/?	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:3713240
cn13	Gt(ROSA)26Sor^{tm1(Kdm6b)Scla}/Gt(ROSA)26Sor⁺ Kdm6b^Gt(XB814)Byg/Kdm6b^Gt(XB814)Byg Tg(Pgk1-cre)1Lni/0	involves: 129P2/OlaHsd * BALB/c * C57BL/6	MGI:5491456
cn14	Phox2b^tm4Jbr/Phox2b⁺ Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:4418305
cn15	Gja1^tm8Kwi/Gja1⁺ Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:3807710
cn16	Phox2b^tm3.1Jbr/Phox2b^tm3.1Jbr Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2	MGI:4418303
cn17	Phox2b^tm4Jbr/Phox2b⁺ Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2	MGI:5293365
cn18	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt Tg(Pgk1-cre)1Lni/?	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:3723640
cn19	Wnk1^tm2.1Juha/Wnk1⁺ Tg(Pgk1-cre)1Lni/0	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:5544572
cn20	Saraf^{tm1c(KOMP)Wtsi}/Saraf^{tm1c(KOMP)Wtsi} Tg(Pgk1-cre)1Lni/0	involves: 129S4/SvJaeSor * BALB/c * C57BL/6J * C57BL/6N	MGI:7537119
cn21	Cadm3^tm1.1Pele/Cadm3^tm1.1Pele Tg(Pgk1-cre)1Lni/0	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6	MGI:5528814
cn22	Cadm2^tm1.1Pele/Cadm2^tm1.1Pele Tg(Pgk1-cre)1Lni/0	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6	MGI:5528813
cn23	Cadm4^tm1.1Pele/Cadm4^tm1.1Pele Tg(Pgk1-cre)1Lni/0	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6	MGI:5528810
cn24	Gjb2^tm2.2Kwi/Gjb2⁺ Tg(Pgk1-cre)1Lni/0	involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6	MGI:4867484
cn25	Epha4^tm2Kldr/Epha4^tm2Kldr Tg(Pgk1-cre)1Lni/0	involves: BALB/c * C57BL/6	MGI:4398699
cn26	Etv2^tm1Vkou/Etv2^tm1Vkou Tg(Pgk1-cre)1Lni/0	involves: BALB/c * C57BL/6	MGI:5474869
cn27	Rnaseh2b^{tm1c(EUCOMM)Wtsi}/Rnaseh2b^{tm1c(EUCOMM)Wtsi} Tg(Pgk1-cre)1Lni/0	involves: BALB/c * C57BL/6 * C57BL/6N * SJL	MGI:5911413
cn28	Raph1^tm1.1Makr/Raph1^tm1.1Makr Tg(Pgk1-cre)1Lni/0	involves: BALB/c * C57BL/6 * C57BL/6NTac	MGI:5575561

Allelic Composition	Gt(ROSA)26Sor^tm1(GRN)Pvd/Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(Pgk1-cre)1Lni/0 Tg(SOD1*G93A)1Gur/0
Genetic Background	B6J.Cg-Tg(Pgk1-cre)1Lni Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(SOD1*G93A)1Gur

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1(GRN)Pvd mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Pgk1-cre)1Lni mutation (1 available)
Tg(SOD1*G93A)1Gur mutation (4 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:211734 )

• average lifespan is 168.4 days

nervous system

motor neuron degeneration ( J:211734 )

• onset or progression of motor neuron degeneration is similar to that seen in mice expressing only Tg(SOD1*G93A)1Gur, with an average onset of disease at 138.2 days

behavior/neurological

impaired coordination ( J:211734 )

• mice show impaired performance on the rotarod and in hanging from a grid to a similar extent as seen in mice expressing only Tg(SOD1*G93A)1Gur

Allelic Composition	Gt(ROSA)26Sor^tm1(GRN)Pvd/Gt(ROSA)26Sor⁺ Tg(Pgk1-cre)1Lni/0 Tg(SOD1*G93A)1Gur/0
Genetic Background	B6J.Cg-Tg(Pgk1-cre)1Lni Gt(ROSA)26Sor^tm1(GRN)Pvd Tg(SOD1*G93A)1Gur

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:211734 )

• average lifespan is 163.3 days

nervous system

motor neuron degeneration ( J:211734 )

• onset or progression of motor neuron degeneration is similar to that seen in mice expressing only Tg(SOD1*G93A)1Gur, with an average onset of disease at 134.2 days

behavior/neurological

impaired coordination ( J:211734 )

• mice show impaired performance on the rotarod and in hanging from a grid to a similar extent as seen in mice expressing only Tg(SOD1*G93A)1Gur

Allelic Composition	Fgf10^tm1Wss/Fgf10⁺ Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * 129X1/SvJ * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf10^tm1Wss mutation (0 available); any Fgf10 mutation (33 available)
Fgfr2^tm2Dsn mutation (0 available); any Fgfr2 mutation (90 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Submandibular gland is hypoplastic in Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0, Fgf10^tm1Wss/Fgf10⁺, and Fgf10^tm1Wss/Fgf10⁺ Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0 mice

endocrine/exocrine glands

abnormal submandibular duct morphology ( J:119849 )

• submandibular salivary glands exhibit fewer ducts and terminal buds than either single heterozygous mutant

decreased submandibular gland size ( J:119849 )

• submandibular salivary glands are smaller than either single heterozygous mutant

digestive/alimentary system

abnormal submandibular duct morphology ( J:119849 )

• submandibular salivary glands exhibit fewer ducts and terminal buds than either single heterozygous mutant

decreased submandibular gland size ( J:119849 )

• submandibular salivary glands are smaller than either single heterozygous mutant

Allelic Composition	Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * 129X1/SvJ * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr2^tm2Dsn mutation (0 available); any Fgfr2 mutation (90 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Submandibular gland is hypoplastic in Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0, Fgf10^tm1Wss/Fgf10⁺, and Fgf10^tm1Wss/Fgf10⁺ Fgfr2^tm2Dsn/Fgfr2⁺ Tg(Pgk1-cre)1Lni/0 mice

endocrine/exocrine glands

submandibular gland hypoplasia ( J:119849 )

digestive/alimentary system

submandibular gland hypoplasia ( J:119849 )

Allelic Composition	Fbxw7^tm1Itom/Fbxw7⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * BALB/c * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbxw7^tm1Itom mutation (0 available); any Fbxw7 mutation (84 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:172214 )

• all pups die shortly after birth

respiratory system

impaired lung alveolus development ( J:172214 )

• disruption of the canalicular and /or terminal sac stage of lung development

thick pulmonary interalveolar septum ( J:172214 )

• thickened alveolar septa at E18.5

vision/eye

eyelids open at birth ( J:172214 )

• in 17 of 40 mice

craniofacial

cleft palate ( J:172214 )

• in 30% of mice

digestive/alimentary system

cleft palate ( J:172214 )

• in 30% of mice

growth/size/body

cleft palate ( J:172214 )

• in 30% of mice

Allelic Composition	Kdm6a^{tm1a(EUCOMM)Jhha}/Y Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * BALB/c * C57BL/6 * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdm6a^{tm1a(EUCOMM)Jhha} mutation (0 available); any Kdm6a mutation (40 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:186686 )

• virtually all embryos die at E9.5 with only a single mouse surviving

embryo

embryonic growth retardation ( J:186686 )

• severe

growth/size/body

embryonic growth retardation ( J:186686 )

• severe

Allelic Composition	Kdm6a^{tm1a(EUCOMM)Jhha}/Kdm6a^{tm1b(EUCOMM)Jhha} Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * BALB/c * C57BL/6 * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdm6a^{tm1a(EUCOMM)Jhha} mutation (0 available); any Kdm6a mutation (40 available)
Kdm6a^{tm1b(EUCOMM)Jhha} mutation (0 available); any Kdm6a mutation (40 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis ( J:186686 )

• at E11.5

nervous system

open neural tube ( J:186686 )

• severe closure defect at E11.5

embryo

open neural tube ( J:186686 )

• severe closure defect at E11.5

Allelic Composition	Slc18b1^tm1.1Ubc/Slc18b1^tm1.1Ubc Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * BALB/c * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc18b1^tm1.1Ubc mutation (0 available); any Slc18b1 mutation (34 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

enhanced behavioral response to amphetamine ( J:282689 )

• increased activity compared treated with wild-type mice

impaired behavioral response to addictive substance ( J:282689 )

• partial resistance to the effect of benzodiazepines based on lower reduction of locomotion compared with treated wild-type mice

abnormal operant conditioning behavior ( J:282689 )

• impaired behavior in a sucrose pellets self-administration paradigm

impaired long-term object recognition memory ( J:282689 )

• impaired memory function

impaired short-term object recognition memory ( J:282689 )

• impaired

abnormal spatial reference memory ( J:282689 )

• increased time to consume pellets in a radial arm maze

abnormal spatial working memory ( J:282689 )

• impaired

impaired learning ( J:282689 )

• in a radial arm maze test

homeostasis/metabolism

abnormal metabolism ( J:282689 )

• reduced brain polyamine content

Allelic Composition	Anxa8^tm1Resc/Anxa8^tm1Resc Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129 * C57BL/6J * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Anxa8^tm1Resc mutation (0 available); any Anxa8 mutation (19 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

impaired leukocyte tethering or rolling ( J:225224 )

• impaired leukocyte rolling flux and adhesion to inflammatory-activated postcapillary venules

• increased leukocyte rolling velocity

cellular

impaired leukocyte tethering or rolling ( J:225224 )

• impaired leukocyte rolling flux and adhesion to inflammatory-activated postcapillary venules

• increased leukocyte rolling velocity

hematopoietic system

impaired leukocyte tethering or rolling ( J:225224 )

• impaired leukocyte rolling flux and adhesion to inflammatory-activated postcapillary venules

• increased leukocyte rolling velocity

Allelic Composition	Flrt3^tm2Kln/Flrt3^tm3Kln Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129P2/OlaHsd * 129S/SvEv * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Flrt3^tm2Kln mutation (0 available); any Flrt3 mutation (44 available)
Flrt3^tm3Kln mutation (0 available); any Flrt3 mutation (44 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

embryo

abnormal neural tube closure ( J:196042 )

• open head

nervous system

abnormal neural tube closure ( J:196042 )

• open head

Allelic Composition	Efnb1^tm1Rha/Efnb1⁺ Tg(Pgk1-cre)1Lni/?
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:110732 )

• only 1-2% of females survived past weaning

skeleton

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 1 of 5 adults

fused carpal bones ( J:110732 )

• distal carpal bones are fused

asymmetric rib joints ( J:110732 )

• at E18.5, in 3 of 8 mice and to a lesser extent than in hemizygous Efnb1^tm1Rha Tg(Pgk1-cre)1Lni males

abnormal cartilage development ( J:110732 )

• cartilages corresponding to the distal carpal bones are delayed or sometimes impaired

limbs/digits/tail

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 1 of 5 adults

fused carpal bones ( J:110732 )

• distal carpal bones are fused

polydactyly ( J:110732 )

• 75% of females exhibit polydactyly

growth/size/body

omphalocele ( J:110732 )

• at E14.5, the body wall is incompletely closed in all embryosat E14.5, the body wall is incompletely closed in all embryos

Allelic Composition	Efnb1^tm1Rha/Y Tg(Pgk1-cre)1Lni/?
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efnb1^tm1Rha mutation (4 available); any Efnb1 mutation (15 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:110732 )

• only 15% of expected males reach weaning

reproductive system

reproductive system phenotype ( J:110732 )

N	• the few surviving males are fertile

limbs/digits/tail

abnormal autopod morphology ( J:110732 )

• at E12, extra cartilaginous elements are present

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 4 of 5 adults typically in the posterior limbs and either attached to or in close proximity to triquatral and harnate bone

fused carpal bones ( J:110732 )

• distal carpal bones are fused

polydactyly ( J:110732 )

• almost exclusively of digits I or II and often associated with syndactyly

polysyndactyly ( J:110732 )

skeleton

abnormal carpal bone morphology ( J:110732 )

• ectopic ossifications form in 4 of 5 adults typically in the posterior limbs and either attached to or in close proximity to triquatral and harnate bone

fused carpal bones ( J:110732 )

• distal carpal bones are fused

abnormal axial skeleton morphology ( J:110732 )

decreased cranium height ( J:110732 )

• at E14.5

abnormal sternebra morphology ( J:110732 )

• at E15.5, 2 sternal bands are incomplete

• condensing mesenchyme (collagen2a+) in sternal bands is diffuse and poorly delineated

sternebra fusion ( J:110732 )

• sternebra are fused in 6 of 11 mice

• ossification centers for sternal segments are expanded and fused regardless of proper rib pairing

asymmetric sternocostal joints ( J:110732 )

• at E18.5, 5 of 11 mice have asymmetric rib pairing

• sternocostal junctions are abnormally positioned and fused in 6 of 11 mice

short sternum ( J:110732 )

abnormal cartilage development ( J:110732 )

• cartilages corresponding to the distal carpal bones are delayed or sometimes impaired

abnormal bone ossification ( J:110732 )

• ossification centers in the ribs for sternal segments are expanded and fused in 6 of 11 mice

craniofacial

decreased cranium height ( J:110732 )

• at E14.5

cleft palate ( J:110732 )

• at E14.5

homeostasis/metabolism

edema ( J:110732 )

• in the back region at E14.5

digestive/alimentary system

cleft palate ( J:110732 )

• at E14.5

growth/size/body

cleft palate ( J:110732 )

• at E14.5

omphalocele ( J:110732 )

• at E14.5, the body wall is incompletely closed

Allelic Composition	Gt(ROSA)26Sor^{tm1(Kdm6b)Scla}/Gt(ROSA)26Sor⁺ Kdm6b^Gt(XB814)Byg/Kdm6b^Gt(XB814)Byg Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(Kdm6b)Scla} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Kdm6b^Gt(XB814)Byg mutation (0 available); any Kdm6b mutation (67 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

mortality/aging ( J:196346 )

N	• neonatal lethality observed in Kdm6b^Gt(XB814)Byg homozygotes is rescued

nervous system

nervous system phenotype ( J:196346 )

N	• mice exhibit normal pre-Botzinger complex

Allelic Composition	Phox2b^tm4Jbr/Phox2b⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2b^tm4Jbr mutation (1 available); any Phox2b mutation (25 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

respiratory system

abnormal respiration ( J:155885 )

• mice are indistinguishable from Phox2b^tm2Jbr heterozygotes

Allelic Composition	Gja1^tm8Kwi/Gja1⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm8Kwi mutation (1 available); any Gja1 mutation (60 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:132032 )

• 54% lethality occurs between E14.5 and 16.5

craniofacial

abnormal craniofacial morphology ( J:132032 )

• only males were tested

• observed in 70% of mutants

abnormal zygomatic arch morphology ( J:132032 )

• mutants have different angle of zygomatic arch relative to wild-type

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

small mandible ( J:132032 )

• mandible size in mutants is reduced compared to wild-type

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

small face ( J:132032 )

• some mutants show obvious compactness of facial region

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

limbs/digits/tail

syndactyly ( J:132032 )

• 70% of mutants exhibit syndactyly (type III); this is observed in second, third, and fourth digits on all limbs

skeleton

abnormal skeleton morphology ( J:132032 )

• bone abnormalities were examined in males only

abnormal zygomatic arch morphology ( J:132032 )

• mutants have different angle of zygomatic arch relative to wild-type

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

small mandible ( J:132032 )

• mandible size in mutants is reduced compared to wild-type

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

decreased bone mineral density ( J:132032 )

• osteopenia is observed in mutants

abnormal trabecular bone morphology ( J:132032 )

• trabecular spacing is increased; however, although trabecular thickness is not different, osteoblast number is not decreased significantly

decreased trabecular bone mass ( J:132032 )

• mutants have a reduction in trabecular bone mass

cellular

abnormal cell physiology ( J:132032 )

• cultured cells show 2-fold higher ATP release upon stimulation in calcium-free solution compared to wild-type cells

integument

sparse hair ( J:132032 )

• observed in 30% of mutants and becomes more pronounced with age

growth/size/body

abnormal tooth hard tissue morphology ( J:132032 )

• decreased enamel thickness in is observed as translucent teeth which wear faster with age

reduced enamel thickness ( J:132032 )

• 80% of mutants display enamel hypoplasia

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

small face ( J:132032 )

• some mutants show obvious compactness of facial region

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

microcephaly ( J:132032 )

respiratory system

abnormal nasal bone morphology ( J:132032 )

• some mice have differences in angle of nasal bone compared to wild-type

depressed nasal bridge ( J:132032 )

• depressed nasal bridge is seen in some mutants with craniofacial abnormalites

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculodentodigital dysplasia		DOID:0060291	OMIM:164200 OMIM:257850	J:132032

Allelic Composition	Phox2b^tm3.1Jbr/Phox2b^tm3.1Jbr Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2b^tm3.1Jbr mutation (2 available); any Phox2b mutation (25 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:155885 )

• mice die at E13.5

Allelic Composition	Phox2b^tm4Jbr/Phox2b⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2b^tm4Jbr mutation (1 available); any Phox2b mutation (25 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:176573 )

nervous system

abnormal retrotrapezoid nucleus morphology ( J:176573 )

• massive depletion of retrotrapezoid nucleus neurons

Allelic Composition	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt Tg(Pgk1-cre)1Lni/?
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax9^tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:125026 )

• mice die at birth

craniofacial

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

endocrine/exocrine glands

absent parathyroid glands ( J:125026 )

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

hearing/vestibular/ear

tympanic ring hypoplasia ( J:125026 )

• mice are born with a hypoplastic tympanic ring

limbs/digits/tail

polydactyly ( J:125026 )

• mice are born with preaxial digit duplication

hematopoietic system

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

behavior/neurological

aphagia ( J:125026 )

• mice die with no evidence of feeding

skeleton

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

immune system

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

growth/size/body

absent teeth ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

Allelic Composition	Wnk1^tm2.1Juha/Wnk1⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pgk1-cre)1Lni mutation (1 available)
Wnk1^tm2.1Juha mutation (0 available); any Wnk1 mutation (115 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Increased distal convoluted tubule fractional volume in Wnk1^tm2.1Juha/Wnk1⁺ Tg(Pgk1-cre)1Lni/0 mice

renal/urinary system

increased urine aldosterone level ( J:200742 )

• elevated 24h urinary aldosterone level

increased urine calcium level ( J:200742 )

• greatly amplified when mice are fed a high Na+ diet

abnormal distal convoluted tubule morphology ( J:200742 )

• increased fractional volume

abnormal kidney physiology ( J:200742 )

• fail to increase K+ and H+ secretion in response to hyperkalemic acidosis

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:200742 )

N	• treatment with hydrochlorothiazide for 3d normalizes the metabolic disorders

hyperkalemia ( J:200742 )

increased urine aldosterone level ( J:200742 )

• elevated 24h urinary aldosterone level

increased urine calcium level ( J:200742 )

• greatly amplified when mice are fed a high Na+ diet

increased circulating chloride level ( J:200742 )

• hyperchloremic metabolic acidosis

metabolic acidosis ( J:200742 )

• hyperchloremic metabolic acidosis

hematopoietic system

decreased hematocrit ( J:200742 )

cardiovascular system

increased systemic arterial systolic blood pressure ( J:200742 )

• on a normal diet

• an additional transient increase is seen when mice are switched from a normal (0.3% Na+) to a high (3% Na+) salt diet

• treatment with hydrochlorothiazide for 3d normalizes the blood pressure

Allelic Composition	Saraf^{tm1c(KOMP)Wtsi}/Saraf^{tm1c(KOMP)Wtsi} Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S4/SvJaeSor * BALB/c * C57BL/6J * C57BL/6N
Cell Lines	EPD0613_2_B07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Saraf^{tm1c(KOMP)Wtsi} mutation (0 available); any Saraf mutation (22 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased lean body mass ( J:337869 )

• at 3 months and 1 year of age, percentage of lean mass is significantly lower than in control mice

increased susceptibility to age related obesity ( J:337869 )

• mice develop age-dependent sarcopenic obesity (not dependent on feeding or accompanied by diabetes)

increased body size ( J:337869 )

• at 1 year of age, mice are overtly larger than control mice

• however, linear growth is not altered

increased body weight ( J:337869 )

• at 3 months of age, body weight is on average ~10% more than that in control mice

• by 1 year of age, body weight is nearly 20% more than that in controls

adipose tissue

increased abdominal adipose tissue amount ( J:337869 )

• at 1 year of age, excess fat is distributed throughout the body with a high tendency for abdominal accumulation

whitened brown adipose tissue morphology ( J:337869 )

• fat accumulates in intracapsular brown adipose tissue (iBAT), resulting in iBAT whitening by 1 year of age

increased white fat cell size ( J:337869 )

• inguinal and visceral adipose tissues (iWAT and vWAT, respectively) show significant white fat cell hypertrophy at 3 months, with an upsurge noted at 1 year of age

increased percent body fat/body weight ( J:337869 )

• at 3 months and 1 year of age, percentage of fat mass is significantly higher than in control mice

liver/biliary system

increased susceptibility to age-related hepatic steatosis ( J:337869 )

• 1-year-old mice exhibit hepatic steatosis

• however, no fat accumulation is noted in the liver at 3 months of age

abnormal hepatocyte physiology ( J:337869 )

• primary hepatocytes isolated from 8- to 12-week-old mice show increased store-operated calcium entry (SOCE) activity, elevated Ca²⁺ oscillations in response to vasopressin (1 nM), and increased mitochondrial spare respiratory capacity

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:337869 )

N	• at 3 months of age, mice exhibit normal fasting glucose levels and normal glucose tolerance relative to control mice

increased circulating corticosterone level ( J:337869 )

• after 15 min of restraint stress, blood corticosterone levels are significantly higher than in control mice, suggesting an increase in hypothalamus-pituitary-adrenal (HPA) axis activation

increased circulating thyroid-stimulating hormone level ( J:337869 )

• at 1 year of age, serum TSH levels are significantly higher than in control mice

abnormal calcium ion homeostasis ( J:337869 )

• primary hepatocytes show increased store-operated calcium entry (SOCE) activity, and elevated Ca²⁺ oscillations in response to physiological levels of vasopressin (1 nM)

decreased basal metabolism ( J:337869 )

• at 3 months of age, mice exhibit a lower metabolic rate, with significantly decreased heat production over time

cellular

decreased fibroblast proliferation ( J:337869 )

• primary mouse embryonic fibroblasts (MEFs) from E14.5 embryos show reduced proliferation relative to wild-type MEFs

decreased neuronal precursor proliferation ( J:337869 )

• in the dorsal and the ventral hippocampus dentate gyrus, the number of PCNA-positive cells per doublecortin (DCX)-positive neuronal progenitors is significantly lower than in control mice

abnormal cellular respiration ( J:337869 )

• primary hepatocytes exhibit an increased mitochondrial spare respiratory capacity

behavior/neurological

behavior/neurological phenotype ( J:337869 )

N	• at 3 months of age, total food intake is not significantly altered, either under basal or refeed-challenged conditions • despite reduced neurogenesis, long-term memory (Morris water maze) and short-term memory (Y-maze) are unaffected

decreased anxiety-related response ( J:337869 )

• 3-month-old mice spend more time in the lit compartment in the dark-light transfer test and show a longer reaction time in the first of three blocks of 120-db stimuli in the acoustic startle response assay, indicating reduced anxiety-like behavior

decreased locomotor activity ( J:337869 )

• at 3 months of age, mice exhibit reduced dark-phase locomotion, as indicated by the light beam breaks count

nervous system

decreased neuronal precursor proliferation ( J:337869 )

• in the dorsal and the ventral hippocampus dentate gyrus, the number of PCNA-positive cells per doublecortin (DCX)-positive neuronal progenitors is significantly lower than in control mice

abnormal hippocampus physiology ( J:337869 )

• EdU incorporation assays show a significant decrease in proliferation in the dorsal and the ventral hippocampus dentate gyrus

endocrine/exocrine glands

decreased activity of thyroid gland ( J:337869 )

• at 1 year of age, mice exhibit subclinical hypothyroidism, with normal serum levels of thyroxine and cholesterol and increased serum TSH levels

Allelic Composition	Cadm3^tm1.1Pele/Cadm3^tm1.1Pele Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cadm3^tm1.1Pele mutation (0 available); any Cadm3 mutation (26 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

nervous system phenotype ( J:199632 )

N	• no neurological abnormalities are detected

Allelic Composition	Cadm2^tm1.1Pele/Cadm2^tm1.1Pele Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cadm2^tm1.1Pele mutation (0 available); any Cadm2 mutation (37 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

nervous system phenotype ( J:199632 )

N	• no neurological abnormalities are detected

Allelic Composition	Cadm4^tm1.1Pele/Cadm4^tm1.1Pele Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cadm4^tm1.1Pele mutation (0 available); any Cadm4 mutation (14 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

limb grasping ( J:199632 )

• display spastic leg extension and enhanced clasping reflex when suspended by the tail

impaired coordination ( J:199632 )

• tend to stagger

• fall more rapidly from a rotarod

abnormal limb posture ( J:199632 )

• hind limb rigidity during their first 3 weeks of life

nervous system

abnormal myelin sheath morphology ( J:199632 )

• display a range of abnormalities including tomacula, comma shaped myelin outfolds and redundant myelin profiles

• in some cases the tomacula are accompanied with myelin degeneration around the axon and axonal displacement

• redundant outfoldings are present in the Schwann cell cytoplasm, between the myelin sheath and axon, and are located near paranodes and Schmidt-Lanterman incisures

• at 2 weeks of age detachment of the myelin sheath from the axon at the inner mesaxon and the presence of multiple inner myelin lips are seen

• abnormalities are detected during the first postnatal week

abnormal paranode morphology ( J:199632 )

• abnormal splitting of the paranodal loops

abnormal myelination ( J:199632 )

• at P1 and P3 fewer axons display myelin profiles compared to controls

decreased nerve conduction velocity ( J:199632 )

Allelic Composition	Gjb2^tm2.2Kwi/Gjb2⁺ Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2^tm2.2Kwi mutation (0 available); any Gjb2 mutation (22 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:166732 )

• some mice die within the first days after birth

prenatal lethality, incomplete penetrance ( J:166732 )

• fewer than expected mice are born

• Background Sensitivity: even fewer mice are born on a predominantly C57BL/6 background compared with a predominantly 129/Sv background

reproductive system

female infertility ( J:166732 )

• female mice fail to produce offspring when mated to wild-type males

hearing/vestibular/ear

decreased endocochlear potential ( J:166732 )

• Background Sensitivity: more pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

increased or absent threshold for auditory brainstem response ( J:166732 )

• Background Sensitivity: more pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

impaired hearing ( J:166732 )

limbs/digits/tail

abnormal tail morphology ( J:166732 )

• on a predominantly C57BL/6 background, mice exhibit wounded tails and annular restrictions compared with wild-type mice

short tail ( J:166732 )

• on a predominantly C57BL/6 background

growth/size/body

decreased body size ( J:166732 )

• at P4 and during adulthood, on a predominantly C57BL/6 background

homeostasis/metabolism

impaired skin barrier function ( J:166732 )

vision/eye

vision/eye phenotype ( J:166732 )

N	• unlike patients with keratitis-ichthyosis-deafness (KID) syndrome, mice do not exhibit corneal defects

integument

increased keratinocyte proliferation ( J:166732 )

• Background Sensitivity: less pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

impaired skin barrier function ( J:166732 )

abnormal nail morphology ( J:166732 )

• on a predominantly C57BL/6 background, mice exhibit abnormal feet nail cases compared with wild-type mice

abnormal skin morphology ( J:166732 )

• Background Sensitivity: mice on a predominantly 129/Sv background exhibit milder skin defects compared with mice on a predominantly C57BL/6 background

hyperkeratosis ( J:166732 )

• hyperkeratotic feet on a predominantly C57BL/6 background

epidermal hyperplasia ( J:166732 )

• mice exhibit increased K1 expression indicating strong epidermal hyperplasia in the spinous and granulous layers compared with wild-type mice

• Background Sensitivity: mice on a predominantly 129/Sv background exhibit milder epidermal hyperplasia compared with mice on a predominantly C57BL/6 background

• however, the basal layer is unaffected

thick epidermis ( J:166732 )

• on the feet of mice with a predominantly C57BL/6 background

scaly skin ( J:166732 )

• on a predominantly C57BL/6 background

shiny skin ( J:166732 )

• on a predominantly C57BL/6 background

cellular

increased keratinocyte proliferation ( J:166732 )

• Background Sensitivity: less pronounced in mice on a predominantly 129/Sv background compared with mice on a predominantly C57BL/6 background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant keratitis-ichthyosis-deafness syndrome		DOID:0060871	OMIM:148210	J:166732

Allelic Composition	Epha4^tm2Kldr/Epha4^tm2Kldr Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epha4^tm2Kldr mutation (0 available); any Epha4 mutation (67 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

nervous system

abnormal anterior commissure morphology ( J:154648 )

• the anterior commissure does not form in its normal location

abnormal spinal cord dorsal column morphology ( J:154648 )

• the ventral part of the dorsal funiculus is reduced and the distance between the dorsal funiculus and the central canal is increased compared to in Epha4^tm2Kldr control mice

behavior/neurological

abnormal gait ( J:154648 )

• mice exhibit a hopping gait unlike Epha4^tm2Kldr control mice

Allelic Composition	Etv2^tm1Vkou/Etv2^tm1Vkou Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Etv2^tm1Vkou mutation (0 available); any Etv2 mutation (14 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:194572 )

• mice die by E9.5

hematopoietic system

absent erythroid progenitor cell ( J:194572 )

• both primitive erythroid and all definitive progenitors

• however, expression of Tal1/Scl rescues hematopoietic defects in embryoid bodies

absent erythrocytes ( J:194572 )

• lack of visible red blood cells

embryo

embryonic growth retardation ( J:194572 )

• severe

growth/size/body

embryonic growth retardation ( J:194572 )

• severe

Allelic Composition	Rnaseh2b^{tm1c(EUCOMM)Wtsi}/Rnaseh2b^{tm1c(EUCOMM)Wtsi} Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: BALB/c * C57BL/6 * C57BL/6N * SJL
Cell Lines	EPD0087_4_A02

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnaseh2b^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Rnaseh2b mutation (43 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:186986 )

• mice exhibit embryonic lethality similar to Rnaseh2c^tm1Roer homozygotes

Allelic Composition	Raph1^tm1.1Makr/Raph1^tm1.1Makr Tg(Pgk1-cre)1Lni/0
Genetic Background	involves: BALB/c * C57BL/6 * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Raph1^tm1.1Makr mutation (2 available); any Raph1 mutation (60 available)
Tg(Pgk1-cre)1Lni mutation (1 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:208191 )

• Background Sensitivity: mice on a pure C57BL/6 genetic background (details not specified) tend to die shortly after birth unlike mice on a mixed background that are present in Mendelian ratios at P0

postnatal lethality, incomplete penetrance ( J:208191 )

• Background Sensitivity: fewer than expected mice on a mixed background are alive at P10 with many mice dying before 6 weeks of age

reproductive system

infertility ( J:208191 )

• Background Sensitivity: mice on a mixed background that reach sexual maturity are infertile

growth/size/body

decreased body size ( J:208191 )

pigmentation

belly spot ( J:208191 )

behavior/neurological

absent gastric milk in neonates ( J:208191 )

integument

belly spot ( J:208191 )

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