All Phenotypes Tg(Nes-cre)1Atp MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Nes-cre)1Atp
transgene insertion 1, Andreas Trumpp
MGI:2176835

Summary

28 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl Tg(Nes-cre)1Atp/0	involves: 129 * FVB/N	MGI:6441946
cn2	Pou5f1^tm1Scho/Pou5f1^tm1Scho Tg(Nes-cre)1Atp/0	involves: 129P2/OlaHsd * FVB/N	MGI:3772214
cn3	Fgf8^tm1.2Mrt/Fgf8^tm1.3Mrt Tg(Nes-cre)1Atp/0	involves: 129P2/OlaHsd * FVB/N	MGI:2176845
cn4	Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb Tg(Nes-cre)1Atp/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:5538346
cn5	Gbx2^tm1Mrt/Gbx2⁺ Tg(Nes-cre)1Atp/?	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3687492
cn6	Paxip1^tm2Gdr/Paxip1^tm2Gdr Tg(Nes-cre)1Atp/?	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3767665
cn7	Rb1^tm3Tyj/Rb1^tm3Tyj Rbl1^tm1Tyj/Rbl1^tm1Tyj Tg(Nes-cre)1Atp/0	involves: 129S2/SvPas * 129S4/SvJae * FVB/N	MGI:3783527
cn8	Rb1^tm3Tyj/Rb1^tm3Tyj Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Atp/0	involves: 129S2/SvPas * 129S4/SvJae * FVB/N	MGI:3783529
cn9	Rb1^tm3Tyj/Rb1^tm3Tyj Rbl2^tm1Tyj/Rbl2^tm1Tyj Tg(Nes-cre)1Atp/0	involves: 129S2/SvPas * 129S4/SvJae * FVB/N	MGI:3783528
cn10	Mapt^{tm1(Setdb1)Akba}/Mapt^{tm1(Setdb1)Akba} Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:5299160
cn11	Mapt^{tm1(Setdb1)Akba}/Mapt⁺ Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:5299159
cn12	Mecp2^tm1Jae/Mecp2⁺ Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N	MGI:3624684
cn13	Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N	MGI:3624680
cn14	Dnmt3a^tm1Jae/Dnmt3a^tm1Jae Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * C57BL/6 * FVB/N	MGI:3711713
cn15	Mecp2^tm1Jae/Y Tg(Camk2a-Setdb1)1Akba/0 Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * C57BL/6 * FVB/N * SJL	MGI:5299161
cn16	Pten^tm1Hwu/Pten^tm1Hwu Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * FVB/N	MGI:4829794
cn17	Rb1^tm3Tyj/Rb1^tm3.1Tyj Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * FVB/N	MGI:3606969
cn18	Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Atp/0	involves: 129S4/SvJae * FVB/N	MGI:3783530
cn19	Cep120^tm1.1Blnw/Cep120^tm1.2Blnw Tg(Nes-cre)1Atp/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5810003
cn20	Gnas^tm5.1Lsw/Gnas^tm5.1Lsw Tg(Nes-cre)1Atp/0	involves: 129S6/SvEvTac * FVB/N	MGI:7367354
cn21	Smad4^tm2.1Cxd/Smad4^tm2.1Cxd Tg(Nes-cre)1Atp/0	involves: 129S6/SvEvTac * FVB/N	MGI:3608993
cn22	Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj Tg(Nes-cre)1Atp/0	involves: 129S/SvEv * FVB/N	MGI:5007643
cn23	Erbb2^tm1Klee/Erbb2^tm1Klee Tg(Nes-cre)1Atp/0	involves: C57BL/6 * FVB/N	MGI:2654632
cn24	Bicd2^tm1Hgrd/Bicd2^tm1Hgrd Tg(Nes-cre)1Atp/0	involves: C57BL/6 * FVB/N	MGI:5810135
cn25	Slitrk2^tm1.1Jwum/Y Tg(Nes-cre)1Atp/0	involves: C57BL/6J * FVB/N	MGI:7547513
cn26	Dmxl2^{tm1c(EUCOMM)Wtsi}/Dmxl2⁺ Tg(Nes-cre)1Atp/0	involves: C57BL/6N * FVB/N	MGI:5805375
cn27	Runx1t1^tm1Buch/Runx1t1⁺ Runx1^tm1Buch/Runx1⁺ Tg(Nes-cre)1Atp/0	involves: FVB/N	MGI:2671931
cn28	Ntf3^tm2Jae/Ntf3^tm2Jae Tg(Nes-cre)1Atp/?	involves: FVB/N	MGI:3767477

Allelic Composition	Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tgfbr1^tm1.1Karl mutation (1 available); any Tgfbr1 mutation (36 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:138715 )

• fetuses fail to survive beyond E15

craniofacial

maxillary prominence hypoplasia ( J:138715 )

• starting at E10, the maxillary process is hypoplastic as a result of dramatic apoptosis occurring at the medial border of the maxillary process bilaterally around E9.5

abnormal medial nasal prominence morphology ( J:138715 )

• TUNEL assays showed increased apoptosis in the mesenchyme of the anterior aspect of the medial nasal process (MNP)

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

cleft upper lip ( J:138715 )

• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%

• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11

• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam

• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence

bilateral cleft upper lip ( J:138715 )

• occasionally at E13.5

unilateral cleft upper lip ( J:138715 )

• frequently at E13.5

digestive/alimentary system

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

growth/size/body

abnormal palatal shelf morphology ( J:138715 )

• development of the palatal shelves is delayed at E13.5, suggesting that secondary palate fusion is extremely unlikely (cleft palate not confirmed due to lethality at E15)

palatal shelf hypoplasia ( J:138715 )

• at E13.5, palatal shelves are hypoplastic

cleft upper lip ( J:138715 )

• at E13.5, embryos exhibit unilateral, or occasionally, bilateral cleft lip extending into the nostril; overall penetrance of cleft lip is 64%

• TUNEL assays showed decreased apoptosis in the epithelial seam between the medial nasal process (MNP) and the maxillary process (MAX) at E11

• at E11, the contact between the medial (MNP) and lateral nasal processes (LNP) is greatly reduced with no apparent involvement of the MAX, resulting in a very small epithelial seam

• cleft lip may be caused by inadequate contact between the MNP and MAX, due to morphological differences, exacerbated by reduced apoptosis and seam persistence

bilateral cleft upper lip ( J:138715 )

• occasionally at E13.5

unilateral cleft upper lip ( J:138715 )

• frequently at E13.5

Allelic Composition	Pou5f1^tm1Scho/Pou5f1^tm1Scho Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129P2/OlaHsd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou5f1^tm1Scho mutation (1 available); any Pou5f1 mutation (82 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

behavior/neurological

behavior/neurological phenotype ( J:130248 )

N	• mutants do not display any apparent behavioral abnormalities

nervous system

nervous system phenotype ( J:130248 )

N	• brain morphology appears normal at 1 year after Pou5f1 deletion

Allelic Composition	Fgf8^tm1.2Mrt/Fgf8^tm1.3Mrt Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129P2/OlaHsd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.2Mrt mutation (0 available); any Fgf8 mutation (21 available)
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:58999 )

• mutants die shortly after birth; lungs do not inflate so death is probably from anoxia

embryo

small first pharyngeal arch ( J:58999 )

• at E9.0 the first branchial arch is smaller than in wild-type

cellular

increased apoptosis ( J:58999 )

• at E8.75-10 extensive cell death is observed; at E9.5 the region with dying cells stretches proximally to the trigeminal swelling and included the maxillary arch-forming region

craniofacial

abnormal craniofacial morphology ( J:58999 )

• mutants have severe craniofacial defects; some mutants show a less severe phenotype with a small increase in dermal bone development and abnormalities are often observed on only one side of the head

absent molars ( J:58999 )

• molars are absent but vestigal lower incisors are present in association with the rostral process

abnormal mandible morphology ( J:58999 )

• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline

abnormal maxilla morphology ( J:58999 )

• there is little expansion of the maxilla primordia as embryos mature

absent incus ( J:58999 )

• incus and ala temporalis fail to form

abnormal craniofacial development ( J:58999 )

• there is an ectodermal covering over the prospective mouth

absent Meckel's cartilage ( J:58999 )

• body of Meckel's cartilage fails to develop

small first pharyngeal arch ( J:58999 )

• at E9.0 the first branchial arch is smaller than in wild-type

decreased tongue size ( J:58999 )

• newborns have small disorganized tongues

nervous system

abnormal trigeminal nerve morphology ( J:58999 )

• the mandibular division of the trigeminal nerve is truncated and misrouted

hearing/vestibular/ear

absent incus ( J:58999 )

• incus and ala temporalis fail to form

digestive/alimentary system

decreased tongue size ( J:58999 )

• newborns have small disorganized tongues

skeleton

absent Meckel's cartilage ( J:58999 )

• body of Meckel's cartilage fails to develop

absent molars ( J:58999 )

• molars are absent but vestigal lower incisors are present in association with the rostral process

abnormal mandible morphology ( J:58999 )

• there is little expansion of the mandible primordia as embryos mature; growth is not completely arrested as the mandibular primordial extend distally and meet at the midline

abnormal maxilla morphology ( J:58999 )

• there is little expansion of the maxilla primordia as embryos mature

absent incus ( J:58999 )

• incus and ala temporalis fail to form

growth/size/body

absent molars ( J:58999 )

• molars are absent but vestigal lower incisors are present in association with the rostral process

decreased tongue size ( J:58999 )

• newborns have small disorganized tongues

Allelic Composition	Slc12a2^tm1.1Jheb/Slc12a2^tm1.1Jheb Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc12a2^tm1.1Jheb mutation (0 available); any Slc12a2 mutation (58 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

behavior/neurological

behavior/neurological phenotype ( J:201156 )

N	• no behavioral abnormalities are detected

Allelic Composition	Gbx2^tm1Mrt/Gbx2⁺ Tg(Nes-cre)1Atp/?
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gbx2^tm1Mrt mutation (0 available); any Gbx2 mutation (27 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

normal phenotype

no abnormal phenotype detected ( J:111945 )

• mice are viable; cre expression is detected in adult brain and kidney (>99% recombination)

Allelic Composition	Paxip1^tm2Gdr/Paxip1^tm2Gdr Tg(Nes-cre)1Atp/?
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Paxip1^tm2Gdr mutation (1 available); any Paxip1 mutation (47 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:128440 )

• no mice survive more than a day after birth associated with reduced histone methyation

Allelic Composition	Rb1^tm3Tyj/Rb1^tm3Tyj Rbl1^tm1Tyj/Rbl1^tm1Tyj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm3Tyj mutation (10 available); any Rb1 mutation (111 available)
Rbl1^tm1Tyj mutation (1 available); any Rbl1 mutation (60 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

postnatal lethality ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt die prior to weaning

vision/eye

abnormal retina apoptosis ( J:91406 )

• mice exhibit higher apoptosis levels than in wild-type and Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

abnormal retina morphology ( J:91406 )

• at E18.5, massive retinal dysplasia is evident

cellular

abnormal retina apoptosis ( J:91406 )

• mice exhibit higher apoptosis levels than in wild-type and Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

Allelic Composition	Rb1^tm3Tyj/Rb1^tm3Tyj Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm3Tyj mutation (10 available); any Rb1 mutation (111 available)
Tg(Nes-cre)1Atp mutation (0 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (240 available)

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

mortality/aging

decreased tumor-free survival time ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit an average lifespan of 92+/-15 days and are moribund with pituitary tumors when euthanized

endocrine/exocrine glands

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression with maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

vision/eye

increased retina apoptosis ( J:91406 )

• retinal apoptosis levels are higher than in wild-type and Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

abnormal eye morphology ( J:91406 )

• dysplasia in both eyes

abnormal retina morphology ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit focal retinal dysplasia

decreased retina photoreceptor cell number ( J:91406 )

thin retina outer nuclear layer ( J:91406 )

• in mice with mosaic cre expression when Tg(Nes-cre)1Mrt is maternally inherited

neoplasm

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression with maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

nervous system

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression with maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

decreased retina photoreceptor cell number ( J:91406 )

cellular

increased retina apoptosis ( J:91406 )

• retinal apoptosis levels are higher than in wild-type and Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

Allelic Composition	Rb1^tm3Tyj/Rb1^tm3Tyj Rbl2^tm1Tyj/Rbl2^tm1Tyj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm3Tyj mutation (10 available); any Rb1 mutation (111 available)
Rbl2^tm1Tyj mutation (1 available); any Rbl2 mutation (52 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

decreased tumor-free survival time ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit an average tumor-free lifespan of 97 days but where sacrificed when moribund

vision/eye

abnormal retina apoptosis ( J:91406 )

• apoptosis levels are higher than in wild-type mice but not higher than in Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

increased retinoblastoma incidence ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit bilateral retinoblastomas that invade surrounding muscle, exhibit rosettes, have foci with high levels of apoptosis and mitoses and are of amacrine lineage

neoplasm

increased retinoblastoma incidence ( J:91406 )

reproductive system

transmission ratio distortion ( J:91406 )

• fewer than expected mice are produced with maternal inheritance of Tg(Nes-cre)1Mrt

cellular

abnormal retina apoptosis ( J:91406 )

• apoptosis levels are higher than in wild-type mice but not higher than in Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Mrt mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinoblastoma		DOID:768	OMIM:180200	J:91406

Allelic Composition	Mapt^{tm1(Setdb1)Akba}/Mapt^{tm1(Setdb1)Akba} Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mapt^{tm1(Setdb1)Akba} mutation (0 available); any Mapt mutation (430 available)
Mecp2^tm1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:178512 )

• most mice die between 8 weeks and 24 weeks of age

behavior/neurological

impaired coordination ( J:178512 )

Allelic Composition	Mapt^{tm1(Setdb1)Akba}/Mapt⁺ Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 * FVB/N

Find Mice

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

mortality/aging

premature death ( J:178512 )

• most mice die between 8 weeks and 24 weeks of age

behavior/neurological

impaired coordination ( J:178512 )

Allelic Composition	Mecp2^tm1Jae/Mecp2⁺ Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

behavior/neurological

ataxia ( J:67909 )

• females appear normal for the first 4 months but show ataxic gait at later ages

decreased locomotor activity ( J:67909 )

• females appear normal for the first 4 months but show hypoactivity at later ages

growth/size/body

increased susceptibility to age related obesity ( J:67909 )

• females appear normal for the first 4 months but gain weight at later ages

Allelic Composition	Mecp2^tm1Jae/Y Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:67909 )

• most die at about 10 weeks of age without obvious correlation between physical deterioration and time of death

behavior/neurological

abnormal behavior ( J:67909 )

• appear healthy for the first few weeks of age but develop abnormal behavior, such as nervousness, at 5 weeks of age

abnormal pilomotor reflex ( J:67909 )

tremors ( J:67909 )

• exhibit body trembling at 5 weeks of age

• at late stages of disease, mutants tremble when handled

decreased locomotor activity ( J:67909 )

• seen at late stages of disease

nervous system

decreased brain size ( J:67909 )

decreased brain weight ( J:67909 )

abnormal hippocampus CA2 region morphology ( J:67909 )

• neurons in the CA2 region are 15-25% smaller than in controls at 8 weeks of age

abnormal neuron morphology ( J:67909 )

• cell bodies and nuclei or neurons in sections of hippocampus, cerebral cortex, and cerebellum are smaller in size and more densely packed

growth/size/body

cachexia ( J:67909 )

• most exhibit signs of physical deterioration by 8 weeks of age and often begin to lose weight at late stages of disease

obese ( J:67909 )

• 6 of 18 become overweight and obese at 40-60 days of age

respiratory system

abnormal respiration ( J:67909 )

• occasionally show heavy breathing at 5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67909

Allelic Composition	Dnmt3a^tm1Jae/Dnmt3a^tm1Jae Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3a^tm1Jae mutation (1 available); any Dnmt3a mutation (139 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:121563 )

• mice have a median survival of ~18 weeks of age

• NOTE: recombination in brain is only ~30% when transgene is inherited maternally, compared to ~95% with paternal transmission, as result of paternal imprinting of transgene; thus, all mice analyzed inherited transgene from male parent

growth/size/body

decreased body weight ( J:121563 )

• 8- to 12-week old males are underweight compared to wild-type littermates, whereas females show normal weights

behavior/neurological

decreased exploration in new environment ( J:121563 )

• when placed in new cage, mutants are only ~40% as active as controls

impaired coordination ( J:121563 )

decreased grip strength ( J:121563 )

• in a hanging wire test, mutants hold on to cage top only ~half as long as controls at 8-12 weeks of age

abnormal gait ( J:121563 )

• at 12 weeks of age, average step distance is ~40% less than heterozygous or wild-type mice; gait widths are variable but average width is not significantly different from controls

decreased locomotor activity ( J:121563 )

• in an activity test, mutants exhibit a baseline activity only ~54% of heterozygous and wild-type controls at 8- to 12-weeks of age

nervous system

nervous system phenotype ( J:121563 )

N	• no major structural abnormalities of the central nervous system are seen between mutants and controls in motor cortex, hippocampus, olfactory bulb, striatum and thalamic nuclei with respect to myelination and gross distribution and size of neuronal cell bodies

decreased motor neuron number ( J:121563 )

• average number of hypoglossal motor neurons in brainstem is reduced compared to littermate controls

• however, motor neuron pools are not depleted in spinal cord or hypoglossal nucleus

abnormal neuromuscular synapse morphology ( J:121563 )

• in diaphragm muscle, 50% of endplates at neuromuscular synapse are fradmented compared to ~18% in control mice, while innervation of endplates is similar to control muscles

muscle

muscle phenotype ( J:121563 )

N	• no gross abnormalities are seen in muscle tissue; no signs of muscle degeneration are observed

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:121563 )

• mice show no abnormalities of serum markers used as indicators of liver and kidney function, such as serum glutamic pyruvic transaminase, glutamic oxaloacetic transaminase, and total protein levels, relative to wild-type; blood urea nitrogen (BUN) and creatinine levels, and BUN/creatinine ratios are normal compared to wild-type

• no gross structural abnormalities or serum clinical parameters indicative of organ (liver, kidney, heart) damage are seen in mutant animals

Allelic Composition	Mecp2^tm1Jae/Y Tg(Camk2a-Setdb1)1Akba/0 Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * FVB/N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mecp2^tm1Jae mutation (2 available); any Mecp2 mutation (41 available)
Tg(Camk2a-Setdb1)1Akba mutation (0 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:178512 )

• mice die between 8 and 40 weeks of age

behavior/neurological

impaired coordination ( J:178512 )

decreased locomotor activity ( J:178512 )

• worse than in Mecp2^tm1Jae/Y mice

growth/size/body

decreased body weight ( J:178512 )

Allelic Composition	Pten^tm1Hwu/Pten^tm1Hwu Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pten^tm1Hwu mutation (16 available); any Pten mutation (88 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:73255 )

• die shortly after birth

nervous system

abnormal brain morphology ( J:73255 )

• cells from mutant brains are larger

abnormal cortical ventricular zone morphology ( J:73255 )

• increase in cell proliferation in the ventricular zone of E14.5 mutant telencephalon

• decrease in cell death in the ventricular zone of E14.5 mutant telencephalon

increased brain size ( J:73255 )

increased brain weight ( J:73255 )

• brain weight is increased at E14, E18, and at birth

• brain weight at birth is double that of wild-type

abnormal brainstem morphology ( J:73255 )

• nuclei in the brainstem are not identifiable

abnormal hippocampus layer morphology ( J:73255 )

• the laminar pattern of the hippocampus is disturbed

abnormal cerebellum morphology ( J:73255 )

• the laminar pattern of the cerebellum is disturbed

absent cerebellar foliation ( J:73255 )

increased neuronal precursor cell number ( J:73255 )

• cortex cells from E14.5 brains cultured at moderate or clonal density exhibit a significantly greater number of neurospheres than wild-type cells, indicating an increase in stem/progenitor cells in mutants

vision/eye

eyelids open at birth ( J:73255 )

growth/size/body

megacephaly ( J:73255 )

Allelic Composition	Rb1^tm3Tyj/Rb1^tm3.1Tyj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm3.1Tyj mutation (0 available); any Rb1 mutation (111 available)
Rb1^tm3Tyj mutation (10 available); any Rb1 mutation (111 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:81643 )

• mutants die within 30 minutes of birth

nervous system

increased neuron apoptosis ( J:81643 )

• at E13.5, apoptosis is increased in the dorsal root ganglia and trigeminal ganglia, but not in the brain

abnormal neuron differentiation ( J:81643 )

• at E13.5, proliferation is increased in the brain, dorsal root ganglia, and trigeminal ganglia

increased brain size ( J:81643 )

• at E18.5, mutant brains are visibly larger than controls

increased brain weight ( J:81643 )

• at E18.5, mutant brains weigh 27% more than controls and no signs of hydrocephalus are seen

vision/eye

abnormal lens development ( J:81643 )

• at E13.5 and E18.5, ectopic proliferating cells are seen in the interior of the lens and increased apoptosis is seen

behavior/neurological

hunched posture ( J:81643 )

• seen at E18.5

muscle

abnormal myogenesis ( J:81643 )

• at E18.5 skeletal muscle differentiation is impaired, abnormally large nuclei with inappropriate S-phase activity are present, and myotubes appear diffusely arranged

hematopoietic system

hematopoietic system phenotype ( J:81643 )

N	• at E13.5 peripheral blood smears contain the normal mix of nucleated and enucleated erythrocytes

liver/biliary system

liver/biliary system phenotype ( J:81643 )

N	• at E13.5, liver cellularity and level of apoptosis are normal

cellular

increased neuron apoptosis ( J:81643 )

• at E13.5, apoptosis is increased in the dorsal root ganglia and trigeminal ganglia, but not in the brain

abnormal neuron differentiation ( J:81643 )

• at E13.5, proliferation is increased in the brain, dorsal root ganglia, and trigeminal ganglia

Allelic Composition	Rb1^tm3Tyj/Rb1^tm3Tyj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1^tm3Tyj mutation (10 available); any Rb1 mutation (111 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

decreased tumor-free survival time ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit an average lifespan of 107 days and are moribund with pituitary tumors when euthanized

endocrine/exocrine glands

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

vision/eye

increased retina apoptosis ( J:91406 )

• mice exhibit increased apoptosis in the retina, especially in the retinal ganglion cell layer compared to wild-type mice

decreased retina photoreceptor cell number ( J:91406 )

• in mice with mosaic cre expression when Tg(Nes-cre)1Mrt is maternally inherited

abnormal retina ganglion layer morphology ( J:91406 )

abnormal retina inner nuclear layer morphology ( J:91406 )

• cell within the inner nuclear cell layer exhibit subtle defects in mice with mosaic cre expression when Tg(Nes-cre)1Mrt is maternally inherited

disorganized retina inner nuclear layer ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit retinal inner nuclear layer disorganization with clusters of ectopic inner nuclear layer cells in the outer plexiform layers approaching the photoreceptors

thin retina outer nuclear layer ( J:91406 )

• in mice with mosaic cre expression when Tg(Nes-cre)1Mrt is maternally inherited

neoplasm

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

nervous system

increased pituitary gland tumor incidence ( J:91406 )

• mice with mosaic cre expression due to maternal inheritance of Tg(Nes-cre)1Mrt exhibit pituitary tumors

decreased retina photoreceptor cell number ( J:91406 )

• in mice with mosaic cre expression when Tg(Nes-cre)1Mrt is maternally inherited

reproductive system

transmission ratio distortion ( J:91406 )

• fewer than expected mice are produced with maternal inheritance of Tg(Nes-cre)1Mrt

cellular

increased retina apoptosis ( J:91406 )

• mice exhibit increased apoptosis in the retina, especially in the retinal ganglion cell layer compared to wild-type mice

Allelic Composition	Cep120^tm1.1Blnw/Cep120^tm1.2Blnw Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep120^tm1.1Blnw mutation (0 available); any Cep120 mutation (50 available)
Cep120^tm1.2Blnw mutation (0 available); any Cep120 mutation (50 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

Hydrocephalus, dilated brain ventricles, and smaller cerebellum in Cep120^tm1.1Blnw/Cep120^tm1.2BlnwTg(Nes-cre)1Atp/0 mice

nervous system

absent brain ependyma motile cilia ( J:220629 )

• at P14, no cilia are detected on brain ependymal cells

decreased cerebellar granule cell precursor proliferation ( J:220629 )

• only a small number of cerebellar granule neuron progenitors (GNPs) are BrdU+ at P1 and the number is even lower at P7 and P14, indicating reduced GNP proliferation

• however, no significant apoptosis is detected in mutant or wild-type GNPs, as shown by TUNEL analysis

abnormal cerebellum development ( J:220629 )

• cerebellum is developmentally arrested at birth and shows a complete lack of foliation

• only a small number of cerebellar GNPs is detected at P7 and P14

• GNP number in EGL (external germinal layer) and IGL (inner granule layer) is slightly lower at P1, further reduced at P7, and barely detectable at P14

• at P14, cilia do not develop on cerebellar GNPs

• however, the Purkinje cell layer is present

absent cerebellar foliation ( J:220629 )

• at P14, the cerebellum lacks its typical foliation pattern

• complete lack of foliation is noted at P7 and P14

thin external granule cell layer ( J:220629 )

• at P1, the EGL is very thin relative to that in wild-type controls

hydrocephaly ( J:220629 )

• although newborns appear overtly normal, mice develop hydrocephalus by P7

• hydrocephalus becomes severe by P14 and is most likely due to loss of motile cilia on brain ependymal cells

abnormal choroid plexus morphology ( J:220629 )

• at P14, slightly fewer cilia are formed in the choroid plexus relative to wild-type controls, as determined by immunostaining for both acetylated tubulin and Arl13b (cilia markers)

dilated brain ventricle ( J:220629 )

• at P14, brain ventricles are severely dilated

abnormal cerebral cortex morphology ( J:220629 )

• at P14, the cerebral cortex is markedly larger than normal due to the accumulation of cerebrospinal fluid

small cerebellum ( J:220629 )

• at P14, the cerebellum is significantly smaller than normal

cerebellum hypoplasia ( J:220629 )

• at P14, mice exhibit severe cerebellar hypoplasia due to failed centriole duplication and maturation and ciliogenesis

cellular

abnormal cell morphology ( J:220629 )

• very few centrioles are present in cerebellar GNPs relative to wild-type controls; remaining single centrioles are daughter centrioles, based on negative Odf2 and 2700049A03Rik (Ta3) staining

abnormal cilium morphology ( J:220629 )

• at P14, no cilia are detected on cerebellar GNPs, unlike in wild-type controls

absent brain ependyma motile cilia ( J:220629 )

• at P14, no cilia are detected on brain ependymal cells

decreased cerebellar granule cell precursor proliferation ( J:220629 )

• only a small number of cerebellar granule neuron progenitors (GNPs) are BrdU+ at P1 and the number is even lower at P7 and P14, indicating reduced GNP proliferation

• however, no significant apoptosis is detected in mutant or wild-type GNPs, as shown by TUNEL analysis

growth/size/body

postnatal growth retardation ( J:220629 )

• mice fail to grow

behavior/neurological

abnormal motor coordination/balance ( J:220629 )

• mice lose motor balance and coordination by P14

Allelic Composition	Gnas^tm5.1Lsw/Gnas^tm5.1Lsw Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S6/SvEvTac * FVB/N

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Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnas^tm5.1Lsw mutation (1 available); any Gnas mutation (54 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

craniofacial

craniofacial phenotype ( J:254756 )

N	• newborns exhibit normal craniofacial structures and completely fused palates; no cleft palate phenotype is observed

Allelic Composition	Smad4^tm2.1Cxd/Smad4^tm2.1Cxd Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4^tm2.1Cxd mutation (2 available); any Smad4 mutation (48 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:86155 )

• when the Nes-Cre transgene is paternally derived, mutant embryos die at early post-implantation stages, however if the Nes-Cre transgene is maternally derived, mutants survive to adulthood

nervous system

decreased Purkinje cell number ( J:86155 )

• number of parvalbumin-containing Purkinje cells is only 43% of that in controls, however hippocampus and synaptic plasticity are normal

abnormal cerebellar molecular layer ( J:86155 )

• number of parvalbumin-positive interneurons in the molecular layer is decreased by 34.4%

behavior/neurological

increased vertical activity ( J:86155 )

• exhibit substantially higher vertical activity, however no differences in the balance bar task, rotarod assay, or horizontal activity

Allelic Composition	Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj Tg(Nes-cre)1Atp/0
Genetic Background	involves: 129S/SvEv * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plxnd1^tm1.1Tmj mutation (1 available); any Plxnd1 mutation (87 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

vision/eye

vision/eye phenotype ( J:172268 )

N	• mice exhibit normal retinal stratification

Allelic Composition	Erbb2^tm1Klee/Erbb2^tm1Klee Tg(Nes-cre)1Atp/0
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2^tm1Klee mutation (0 available); any Erbb2 mutation (61 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:81239 )

• death between 3 and 8 weeks of age

digestive/alimentary system

abnormal colon morphology ( J:81239 )

• mutants exhibit a constricted distal colon and a distended proximal colon

• mutants show an increase in the number of apoptotic cells in the myenteric layer of the colon, but no difference in apoptosis in the mucosa

growth/size/body

decreased body size ( J:81239 )

• starting at 2 weeks after birth, mutants become noticeably smaller than controls

• mutants are often less than half the size of controls at time of death

postnatal growth retardation ( J:81239 )

• starting at 2 weeks after birth, mutants become noticeably smaller than controls

distended abdomen ( J:81239 )

nervous system

abnormal enteric ganglia morphology ( J:81239 )

• loss of enteric glia in the colon by 3-4 weeks of age

abnormal enteric neuron morphology ( J:81239 )

• progressive postnatal loss of enteric neurons in the colon but not the intestine, such that there is a 55% decrease in enteric neurons at P24

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:81239

Allelic Composition	Bicd2^tm1Hgrd/Bicd2^tm1Hgrd Tg(Nes-cre)1Atp/0
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bicd2^tm1Hgrd mutation (0 available); any Bicd2 mutation (31 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

mortality/aging

premature death ( J:210236 )

• mice die by 3-4 weeks of age

nervous system

hydrocephaly ( J:210236 )

• mice develop severe progressive hydrocephalus

abnormal hippocampus layer morphology ( J:210236 )

• mice exhibit disrupted laminar organization in the hippocampus

abnormal stratification in cerebral cortex ( J:210236 )

• mice exhibit disrupted laminar organization in the cortex

abnormal cerebellar layer morphology ( J:210236 )

• mice exhibit disrupted laminar organization in the cerebellar cortex

Allelic Composition	Slitrk2^tm1.1Jwum/Y Tg(Nes-cre)1Atp/0
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slitrk2^tm1.1Jwum mutation (0 available); any Slitrk2 mutation (6 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

growth/size/body

decreased body weight ( J:342291 )

• males weigh marginally, but significantly, less at P30, P40, and P50 compared to wild-type males, however this is a characteristic of the nestin-cre driver line

behavior/neurological

impaired spatial learning ( J:342291 )

• mice show impaired spatial learning and memory assessed by novel object-recognition tests

• however, spontaneous alternation in Y-maze test is similar to controls

• however, 10-week-old mice show comparable exploratory behavior in the open-field test, and sociability and social novelty recognition memory in the three-chamber test as controls

abnormal long-term spatial reference memory ( J:342291 )

• mice show impaired retention of spatial reference memory, showing worse accuracy of spatial memory in the second probe test of the Barnes maze than in controls

• however, mice show normal acquisition of spatial reference memory in the Barnes maze test

decreased anxiety-related response ( J:342291 )

• mice show reduced anxiety-like behavior, spending increased time in the open arms with a similar number of entries into each arm in the elevated plus-maze

• however, time spent in the light compartment in the light-dark test is normal

abnormal gait ( J:342291 )

• mice exhibit longer front/hind paw overlap length, despite normal limb strength

• however, the mean stride length, stance length, and sway length of forelimbs and hindlimbs are normal

nervous system

abnormal postsynaptic density morphology ( J:342291 )

• density of VGLUT1 and PSD-95 puncta is decreased in a subset of hippocampal CA1 layers, the stratum oriens and stratum radiatum

abnormal excitatory synapse morphology ( J:342291 )

• mice show impaired excitatory synaptic development, with a reduction in the density of excitatory postsynaptic puncta

• however, neither the density nor size of inhibitory synaptic puncta are changed in neurons and gross morphology, cortical thickness and neuron numbers, including interneuron numbers, and ventricle volumes are similar to controls

abnormal miniature excitatory postsynaptic currents ( J:342291 )

• frequency, but not amplitude, decay time, or rise slope, of miniature excitatory postsynaptic currents (mEPSCs) in cultured hippocampal neurons is decrease

• however, the frequency or amplitude of miniature inhibitory postsynaptic currents (mIPSCs) is unaffected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
non-syndromic X-linked intellectual developmental disorder 111		DOID:0060929	OMIM:301107	J:342291

Allelic Composition	Dmxl2^{tm1c(EUCOMM)Wtsi}/Dmxl2⁺ Tg(Nes-cre)1Atp/0
Genetic Background	involves: C57BL/6N * FVB/N
Cell Lines	EPD0431_3_E07

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dmxl2^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Dmxl2 mutation (122 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

Fewer GnRH-ir neurons in the hypothalamus of Dmxl2^{tm1c(EUCOMM)Wtsi}/Dmxl2⁺ Tg(Nes-cre)1Atp/0 male mice

growth/size/body

decreased body weight ( J:217623 )

• females weigh significantly less than control females from P25 to P60

• males weigh significantly less than control males from P30 to P40

reproductive system

short perineum ( J:217623 )

• males exhibit a significantly shorter anogenital distance than control littermates

decreased corpora lutea number ( J:217623 )

• corpora lutea number is significantly lower than in control littermates

• however, numbers of antral follicles are normal

decreased ovary weight ( J:217623 )

• ovary weight is significantly lower than in control littermates

decreased testis weight ( J:217623 )

• testis weight is significantly lower than in control littermates

delayed sexual maturation ( J:217623 )

• mice display delayed puberty and poor fertility largely due to a hypothalamic defect

delayed vaginal opening ( J:217623 )

• vaginal opening is significantly delayed relative to control littermates

decreased ovulation rate ( J:217623 )

• females exhibit a very low ovulation rate relative to control littermates

abnormal estrous cycle ( J:217623 )

• very few females complete a full estrous cycle over a 20-day period

delayed estrous cycle ( J:217623 )

• first estrus occurs at a significantly later age than in control littermates

• the interval from vaginal opening to first estrus is significantly longer than in control littermates, suggesting a defect in maturation of the HPG axis

short proestrus ( J:217623 )

• females spend significantly less time in proestrus than control littermates

reduced fertility ( J:217623 )

• mice exhibit a partial gonadotropic axis deficiency, resulting in very low fertility, due to a loss of GnRH neurons in the hypothalamus

reduced female fertility ( J:217623 )

• females exhibit very poor fertility, producing few, if any litters, over a period of 3 months

reduced male fertility ( J:217623 )

• males are subfertile

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:217623 )

N	• females exhibit normal plasma estradiol concentrations • administration of PMSG to young mice induces a normal increase in estradiol concentration, similar to that observed in control littermates

decreased circulating testosterone level ( J:217623 )

• males exhibit significantly lower plasma testosterone concentrations than control littermates

increased circulating luteinizing hormone level ( J:217623 )

• females exhibit moderately, but significantly, higher plasma LH concentrations than control littermates

• males show normal plasma LH concentrations

• gonadotropin-releasing hormone (GnRH)-induced increase in LH concentration is normal

nervous system

abnormal hypothalamus morphology ( J:217623 )

• males show a significant decrease in the number of total GnRH-immunoreactive (GnRH-ir) neurons in the hypothalamus relative to control littermates

• in males, significant loss of GnRH-ir neurons in the OVLT (organum vasculosum of the lamina terminalis) is not compensated by an increase in the number of GnRH-ir neurons in the rostral or caudal regions of the hypothalamus

abnormal hypothalamus secretion ( J:217623 )

• males exhibit significantly lower gonadotropin-releasing hormone (GnRH) mRNA levels in the hypothalamus than control littermates

• however, mRNA levels of other hypothalamic-releasing hormones are normal

endocrine/exocrine glands

decreased corpora lutea number ( J:217623 )

• corpora lutea number is significantly lower than in control littermates

• however, numbers of antral follicles are normal

decreased ovary weight ( J:217623 )

• ovary weight is significantly lower than in control littermates

decreased testis weight ( J:217623 )

• testis weight is significantly lower than in control littermates

behavior/neurological

increased exploration in new environment ( J:217623 )

• at P30, mice show an increased number of blocks occupied in trial 1 in the Neogait Openfield system, indicating higher levels of exploratory behavior relative to control littermates

• however, this difference disappears in trial 2, suggesting a possible effect of fatigue

digestive/alimentary system

short perineum ( J:217623 )

• males exhibit a significantly shorter anogenital distance than control littermates

Allelic Composition	Runx1t1^tm1Buch/Runx1t1⁺ Runx1^tm1Buch/Runx1⁺ Tg(Nes-cre)1Atp/0
Genetic Background	involves: FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Runx1t1^tm1Buch mutation (0 available); any Runx1t1 mutation (37 available)
Runx1^tm1Buch mutation (0 available); any Runx1 mutation (34 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

normal phenotype

no abnormal phenotype detected ( J:68499 )

• mice were viable and showed no malignancies within 5 months of birth

Allelic Composition	Ntf3^tm2Jae/Ntf3^tm2Jae Tg(Nes-cre)1Atp/?
Genetic Background	involves: FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ntf3^tm2Jae mutation (1 available); any Ntf3 mutation (24 available)
Tg(Nes-cre)1Atp mutation (0 available)

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

nervous system

abnormal cerebellar foliation ( J:52951 )

• at P8, cerebellar foliation is defective

• at P8, folium VII and the posterior superior fissure are absent

• however, the formation of cerebellum layers and their associations with specific cell types is normal

abnormal cerebellar granule layer morphology ( J:52951 )

• at P8, apoptotic rates are 75% higher (37.3+/-11.4 cells per mm² compared to 21.3+/-6.98 cells per mm² in wild-type mice)

• however, there is no increase in apoptotic cells in the external germinal layer

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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