All Phenotypes Tg(Pax3-cre)1Joe MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Pax3-cre)1Joe
transgene insertion 1, Jonathan A Epstein
MGI:2176205

Summary

26 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Pax3-cre)1Joe/0	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL	MGI:4849538
cn2	Sox9^tm1Gsr/Sox9⁺ Tg(Pax3-cre)1Joe/0	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL	MGI:4849537
cn3	Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv	MGI:3713802
cn4	Podxl^tm1Parl/Podxl^tm1Parl Podxl2^{tm1c(EUCOMM)Wtsi}/Podxl2^{tm1c(EUCOMM)Wtsi} Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6N * SJL	MGI:6711207
cn5	Nf1^tm1Par/Nf1^tm1Par Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3710236
cn6	Agrn^tm1Rwb/Agrn^tm1Rwb Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3716768
cn7	Lin7c^tm2Dsb/Lin7c^tm2Dsb Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3804964
cn8	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3822745
cn9	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2⁺ Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5438670
cn10	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5438671
cn11	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5438672
cn12	Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5774470
cn13	Cdx1^tm1Pgr/Cdx1^tm1Pgr Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5774471
cn14	Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Pax3^Sp/Pax3⁺ Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5774472
cn15	Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5523680
cn16	Notch1^tm6.1Rko/Notch1^tm6.1Rko Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5523682
cn17	Notch1^tm6.1Rko/Notch1⁺ Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5523681
cn18	Trpm7^tm1Clph/Trpm7^tm1Clph Tg(Pax3-cre)1Joe/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:6220898
cn19	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac	MGI:3044107
cn20	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac	MGI:3044106
cn21	Men1^tm1.2Ctre/Men1^tm1.2Ctre Tg(Pax3-cre)1Joe/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:7344037
cn22	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm3.1Lni/Fgfr2^tm3.1Lni Tg(Pax3-cre)1Joe/0	involves: 129/Sv * BALB/c * C57BL/6 * FVB/N * SJL	MGI:5438679
cn23	Gja1^tm1Gfi/Gja1^tm1.1Gfi Tg(Pax3-cre)1Joe/0	involves: 129/Sv * C57BL/6 * FVB/N * SJL	MGI:3652963
cn24	Myocd^tm1Msp/Myocd^tm1Msp Tg(Pax3-cre)1Joe/0	involves: 129/Sv * C57BL/6 * SJL	MGI:3797716
cn25	Ctnnd1^tm1Lfr/Ctnnd1^tm1Lfr Tg(Pax3-cre)1Joe/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:5439470
cn26	Sp4^tm2Krc/Sp4^tm2Krc Tg(Pax3-cre)1Joe/0	involves: C57BL/6 * SJL	MGI:3622075

Allelic Composition	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:166547 )

• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants

abnormal ureter morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

• the composition of ureter extracellular matrix is altered compared to in wild-type mice

• however, ureteric mesenchyme condensation and differentiation are normal

abnormal ureter smooth muscle morphology ( J:166547 )

• ureters are deficient in smooth muscle cells compared to in wild-type mice

dilated ureter ( J:166547 )

• at E18.5

hydroureter ( J:166547 )

• bilateral in 28% of mice at E18.5

• unilateral in 34% of mice at E18.5

distended urinary bladder ( J:166547 )

• in 72% of mice at E18.5

limbs/digits/tail

abnormal limb development ( J:166547 )

• at E18.5, mice exhibit rudimentary limbs compared with wild-type mice

short tail ( J:166547 )

• at E18.5, mice exhibit tail truncation compared with wild-type mice

embryo

abnormal rostral-caudal body axis extension ( J:166547 )

• at E18.5, mice exhibit shortened body axis compared with wild-type mice

muscle

impaired ureteric peristalsis ( J:166547 )

• cultured ureter explants from E15.5 embryos exhibit only mediocre elongation and weak peristaltic activity compared with wild-type explants

Allelic Composition	Sox9^tm1Gsr/Sox9⁺ Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * NMRI * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox9^tm1Gsr mutation (2 available); any Sox9 mutation (33 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

hydroureter ( J:166547 )

• bilateral in 4% of mice at E18.5

• unilateral in 25% of mice at E18.5

distended urinary bladder ( J:166547 )

• in 5% of mice t E18.5

Allelic Composition	Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm3Grid mutation (2 available); any Notch2 mutation (99 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119907 )

• embryos die at E13.5 from vascular failure and hemorrhage into internal organs

renal/urinary system

abnormal kidney vasculature morphology ( J:119907 )

• on P2, kidneys appear to have lost vascular integrity

kidney hemorrhage ( J:119907 )

• hemorrhage into interstitial spaces of kidneys is observed at P1

abnormal kidney collecting duct morphology ( J:119907 )

• collecting ducts are less extensively branched than in wild-type or heterozygous littermates at P2

absent podocytes ( J:119907 )

• do not develop

abnormal renal glomerulus morphology ( J:119907 )

abnormal kidney development ( J:119907 )

• convoluted renal epithelia is not distinguishable from glomeruli or S-shaped bodies at P2 in developing kidneys

• kidneys develop lacking proximal tubule and podocytes

• mice lack filtration apparatus, which results in fatal renal failure within 48 hours of birth

abnormal kidney pelvis morphology ( J:119907 )

abnormal kidney papilla morphology ( J:119907 )

• papilla is flattened at P2

small kidney ( J:119907 )

• kidneys of newborns are smaller than heterozygous Notch2 littermates

renal hypoplasia ( J:119907 )

• kidneys are hypoplastic at P2

abnormal renal tubule morphology ( J:119907 )

abnormal proximal convoluted tubule morphology ( J:119907 )

• tubule does not develop

abnormal urinary bladder morphology ( J:119907 )

• animals have small bladders compared to littermates

kidney failure ( J:119907 )

• fatal renal failure within 48 hours of birth

cardiovascular system

abnormal kidney vasculature morphology ( J:119907 )

• on P2, kidneys appear to have lost vascular integrity

kidney hemorrhage ( J:119907 )

• hemorrhage into interstitial spaces of kidneys is observed at P1

cellular

cellular phenotype ( J:119907 )

N	• no significant differences are seen in apoptosis or numbers of proliferating cells in renal epithelia close to ureteric bud tips in mutants relative to controls

abnormal cell cycle ( J:119907 )

• in mutant kidneys, subpopulation of Notch2-deficient, Pax2^high, Jag-expressing cells enter cell cycle ~2-fold less frequently than cells in wild-type

Allelic Composition	Podxl^tm1Parl/Podxl^tm1Parl Podxl2^{tm1c(EUCOMM)Wtsi}/Podxl2^{tm1c(EUCOMM)Wtsi} Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6N * SJL
Cell Lines	EPD0647_7_C06

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Podxl2^{tm1c(EUCOMM)Wtsi} mutation (0 available); any Podxl2 mutation (26 available)
Podxl^tm1Parl mutation (0 available); any Podxl mutation (17 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

renal/urinary system phenotype ( J:240523 )

N	• mice show no delay in timely lumen formation in developing epithelial tubules in the kidney at E14.5

Allelic Composition	Nf1^tm1Par/Nf1^tm1Par Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1^tm1Par mutation (4 available); any Nf1 mutation (161 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

growth/size/body

decreased body size ( J:80323 )

respiratory system

respiratory failure ( J:80323 )

• pups do not initiate normal respiration

nervous system

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

abnormal sympathetic ganglion morphology ( J:80323 )

• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:80323 )

abnormal adrenal cortex morphology ( J:80323 )

• a thinning and distortion of the adrenal cortex

thin adrenal cortex ( J:80323 )

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

enlarged adrenal glands ( J:80323 )

increased pheochromocytoma incidence ( J:80323 )

neoplasm

increased tumor incidence ( J:80323 )

• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

increased pheochromocytoma incidence ( J:80323 )

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

cardiovascular system

cardiovascular system phenotype ( J:80323 )

N	• normal cardiac development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:80323

Allelic Composition	Agrn^tm1Rwb/Agrn^tm1Rwb Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Agrn^tm1Rwb mutation (1 available); any Agrn mutation (102 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:122821 )

• mutants are stillborn

nervous system

abnormal neuromuscular synapse morphology ( J:122821 )

• diaphragms lack neuromuscular junctions

muscle

abnormal diaphragm morphology ( J:122821 )

• diaphragms lack neuromuscular junctions

Allelic Composition	Lin7c^tm2Dsb/Lin7c^tm2Dsb Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin7c^tm2Dsb mutation (0 available); any Lin7c mutation (17 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

Lin7c^tm2Dsb/Lin7c^tm2Dsb Tg(Pax3-cre)1Joe kidney exhibits increased apoptosis

renal/urinary system

increased kidney apoptosis ( J:134806 )

• E14.5 kidneys have a 10-fold more apoptosis occurring within the renal capsule compared to controls

• this increased apoptosis is evident as early as E12.5

renal interstitial fibrosis ( J:134806 )

• is observed in adult kidneys with extracellular matrix proteins and fibroblasts evident

decreased kidney weight ( J:134806 )

• kidneys are about half the weight of wild-type kidney

dilated renal tubule ( J:134806 )

• adult kidneys display tubular dilation and dedifferentiation of the renal tubules

cellular

increased kidney apoptosis ( J:134806 )

• E14.5 kidneys have a 10-fold more apoptosis occurring within the renal capsule compared to controls

• this increased apoptosis is evident as early as E12.5

Allelic Composition	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dag1^tm2Kcam mutation (2 available); any Dag1 mutation (109 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

nervous system

abnormal neuromuscular synapse morphology ( J:142595 )

• in the tibialis muscle, acetylcholine receptors cluster are only found in 3% of neuromuscular junctions (NMJs) unlike in wild-type mice that exhibit clusters in 97% of NMJs

• postsynaptic NMJ maturation is impaired in 97% of muscle fibers compared to in wild-type mice

• however, nerve terminals fully cover postsynaptic sites as in wild-type mice

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2⁺ Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2^tm1Dor mutation (3 available); any Fgfr2 mutation (90 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

renal/urinary system phenotype ( J:107078 )

N	• mice exhibit normal-appearing kidneys after birth • kidneys exhibit normal cortical and medullary structures at E16.5 and remain normal throughout embryonic development

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

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

renal/urinary system

renal/urinary system phenotype ( J:107078 )

N	• mice exhibit normal-appearing kidneys after birth • kidneys exhibit normal cortical and medullary structures at E16.5 and remain normal throughout embryonic development

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

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

renal/urinary system

increased metanephric mesenchyme apoptosis ( J:107078 )

• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls

increased kidney apoptosis ( J:107078 )

• abnormally high rates of apoptosis are detected in mesenchyme dorsal to the initial ureteric bud at E10.5 and then in the rudimentary ureteric bud and Wolffian duct at E11.5

decreased kidney cell proliferation ( J:107078 )

• at E10.5, mice exhibit local areas of hypoproliferation (decreased BrdU uptake) in mesenchyme dorsal to the ureteric bud (where metanephric mesenchyme should be present)

absent metanephric mesenchyme ( J:107078 )

• at E10.5, mice exhibit no histologically recognizable condensing metanephric mesenchyme within the loose mesenchyme, unlike controls

• by E11.5, no definitive metanephric mesenchyme is seen around the unbranched ureteric buds, unlike in controls

absent kidney ( J:107078 )

• mice exhibit total renal aplasia

• however, mice develop bladders and structures originating from intermediate mesoderm including ovaries, testes, Mullerian ducts, and ductus deferens

abnormal ureteric bud morphology ( J:107078 )

• mice occasionally develop two initial ureteric buds from the Wolffian duct, unlike controls

impaired branching involved in ureteric bud morphogenesis ( J:107078 )

• failure of uteretic buds to branch by E11.5

abnormal ureteric bud elongation ( J:107078 )

• by E11.5, ureteric buds fail to elongate or branch

ectopic ureteric bud ( J:107078 )

• mice occasionally develop an ectopic ureteric bud

small ureteric bud ( J:107078 )

• a smaller ureteric bud is usually observed at E10.5 and E11.0

cellular

increased metanephric mesenchyme apoptosis ( J:107078 )

• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls

increased kidney apoptosis ( J:107078 )

• abnormally high rates of apoptosis are detected in mesenchyme dorsal to the initial ureteric bud at E10.5 and then in the rudimentary ureteric bud and Wolffian duct at E11.5

decreased kidney cell proliferation ( J:107078 )

• at E10.5, mice exhibit local areas of hypoproliferation (decreased BrdU uptake) in mesenchyme dorsal to the ureteric bud (where metanephric mesenchyme should be present)

embryo

increased metanephric mesenchyme apoptosis ( J:107078 )

• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls

Allelic Composition	Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:231654 )

• a high number of newborns die at about P1, with very little, if any, milk in their stomach

postnatal lethality, incomplete penetrance ( J:231654 )

• a subset of mutants with severe growth delay die at around P10

behavior/neurological

absent gastric milk in neonates ( J:231654 )

• newborns that die at P1 have very little, if any, milk in their stomachs

growth/size/body

decreased body size ( J:231654 )

postnatal growth retardation ( J:231654 )

• mutants that survive past P2 exhibit severe growth delay

integument

abnormal coat/hair pigmentation ( J:231654 )

• 100% of mice that survive past P2 show pigmentation anomalies

abnormal hind foot hair pigmentation ( J:231654 )

• mice that survive past P2 lack pigmentation in the hindpaws

abnormal tail hair pigmentation ( J:231654 )

• mice that survive past P2 lack pigmentation in the distal tail

belly spot ( J:231654 )

• in about 25% of surviving mice, a tiny white spot is seen on the belly

limbs/digits/tail

kinked tail ( J:231654 )

• half of newborns exhibit a kinked tail

pigmentation

abnormal coat/hair pigmentation ( J:231654 )

• 100% of mice that survive past P2 show pigmentation anomalies

abnormal hind foot hair pigmentation ( J:231654 )

• mice that survive past P2 lack pigmentation in the hindpaws

abnormal tail hair pigmentation ( J:231654 )

• mice that survive past P2 lack pigmentation in the distal tail

belly spot ( J:231654 )

• in about 25% of surviving mice, a tiny white spot is seen on the belly

renal/urinary system

hydronephrosis ( J:231654 )

• about half of mice that die at P10 exhibit hydronephrotic kidney

reproductive system

reduced fertility ( J:231654 )

• mice exhibit reproduction problems

Allelic Composition	Cdx1^tm1Pgr/Cdx1^tm1Pgr Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdx1^tm1Pgr mutation (1 available); any Cdx1 mutation (13 available)
Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln} mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

cellular

abnormal melanoblast migration ( J:231654 )

• melanoblasts migrating along the dorsolateral pathway in hindlimb buds are not well aligned in mutants

embryo

abnormal melanoblast migration ( J:231654 )

• melanoblasts migrating along the dorsolateral pathway in hindlimb buds are not well aligned in mutants

integument

white spotting ( J:231654 )

• increase in penetrance and extent of white spotting in the posterior regions

belly spot ( J:231654 )

nervous system

abnormal hypoglossal nerve morphology ( J:231654 )

• E10.5 mutants exhibit abnormalities of the hypoglossal nerve, with the converging roots appearing disorganized and less dense and resulting in a reduced number of elongating axons that are shorter

fused dorsal root ganglion ( J:231654 )

• E10.5 embryos exhibit the presence of fusions of dorsal root ganglia in the cervical region

pigmentation

white spotting ( J:231654 )

• increase in penetrance and extent of white spotting in the posterior regions

belly spot ( J:231654 )

Allelic Composition	Gt(ROSA)26Sor^{tm1(en/Cdx1,-EGFP)Npln}/Gt(ROSA)26Sor⁺ Pax3^Sp/Pax3⁺ Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

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

integument

abnormal coat/hair pigmentation ( J:231654 )

• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants

• lack of pigmentation in the forepaws and hindpaws

abnormal tail hair pigmentation ( J:231654 )

• lack of pigmentation in the distal tail

belly spot ( J:231654 )

nervous system

abnormal enteric ganglia morphology ( J:231654 )

• mice exhibit hypoganglionosis

pigmentation

abnormal coat/hair pigmentation ( J:231654 )

• posterior pigmentation anomalies of each single mutant are accentuated in all double mutants

• lack of pigmentation in the forepaws and hindpaws

abnormal tail hair pigmentation ( J:231654 )

• lack of pigmentation in the distal tail

belly spot ( J:231654 )

Allelic Composition	Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2^tm3Grid mutation (2 available); any Notch2 mutation (99 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:198632 )

• pups die within 24 hours of birth

renal/urinary system

renal hypoplasia ( J:198632 )

Allelic Composition	Notch1^tm6.1Rko/Notch1^tm6.1Rko Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch1^tm6.1Rko mutation (0 available); any Notch1 mutation (117 available)
Notch2^tm3Grid mutation (2 available); any Notch2 mutation (99 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:198632 )

• pups die within 24 hours of birth

renal/urinary system

renal hypoplasia ( J:198632 )

• newborns have hypoplastic kidneys without functional nephrons; two copies of the Notch1 intracellular domain (N1ICD) expressed from the Notch2 locus cannot rescue nephrons

Allelic Composition	Notch1^tm6.1Rko/Notch1⁺ Notch2^tm3Grid/Notch2^tm3Grid Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * SJL

Find Mice

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

renal/urinary system

renal hypoplasia ( J:198632 )

• newborns have hypoplastic kidneys without functional nephrons; one copy of the N2ICD expressed from the Notch1 locus cannot rescue nephrons

Allelic Composition	Trpm7^tm1Clph/Trpm7^tm1Clph Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pax3-cre)1Joe mutation (0 available)
Trpm7^tm1Clph mutation (1 available); any Trpm7 mutation (102 available)

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

Small kidney, kidney cysts, and reduced number of glomeruli in Trpm7^tm1Clph/Trpm7^tm1Clph Tg(Pax3-cre)1Joe/0 mice

renal/urinary system

kidney cyst ( J:181963 )

• at P12, many large renal cysts are observed, unlike in control kidneys

• small cysts first emerge at P4; no cysts are observed at P2

kidney cortex cyst ( J:181963 )

• proximal tubular cysts emerge at P4

• no cysts associated with connecting tubules, distal convoluted tubules, or collecting ducts are observed

decreased renal glomerulus number ( J:181963 )

• at E18.5 and P12, very few glomeruli are observed, unlike in control kidneys

abnormal kidney development ( J:181963 )

small kidney ( J:181963 )

• at E14.5 and E18.5, kidneys are smaller than those of controls

• at P12, kidneys are less than half the size of control kidneys

abnormal nephron morphogenesis ( J:181963 )

• at E14.5, only spherical renal vesicles are present while comma- and S-shaped bodies are clearly absent, unlike in control kidneys

abnormal S-shaped body morphology ( J:181963 )

• at E14.5, S-shaped bodies are absent

abnormal comma shaped body morphology ( J:181963 )

• at E14.5, comma-shaped bodies are absent

abnormal renal tubule morphology ( J:181963 )

• at P2, eosinophilic acellulal material consistent with protein is present in the lumen of dilated renal tubules and the basement membrane is disrupted around dilated tubules

dilated renal tubule ( J:181963 )

• at P2, dilated tubules are observed in the renal cortex, unlike in control kidneys

kidney failure ( J:181963 )

• mice exhibit progressive kidney failure

pigmentation

abnormal hair follicle melanocyte morphology ( J:181963 )

• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region

• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk

absent hair follicle melanin granules ( J:181963 )

• at P2, pigment in hair follicles is reduced only in the lower trunk

abnormal rostrocaudal coat patterning ( J:181963 )

• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice

decreased melanocyte number ( J:181963 )

• toluidine blue staining of P2 dorsal lumbar skin sections shows loss of pigment cells in the lower trunk relative to wild-type controls

• immunohistochemistry of P2 dorsal lumbar skin sections confirmed drastic loss of microphthalmia-associated transcription factor (MiTF)-positive or DCT-positive pigment cells in the lower trunk

hypopigmentation ( J:181963 )

• at P2 and P12, mice exhibit loss of pigmentation only in the lower trunk

integument

abnormal hair follicle melanocyte morphology ( J:181963 )

• at P12, dorsal skin shows absence of pigment cells in hair follicles only in the lower trunk region

• at P2, dopachrome tautomerase (DCT)-positive pigment cells in hair follicles are reduced only in the lower trunk

absent hair follicle melanin granules ( J:181963 )

• at P2, pigment in hair follicles is reduced only in the lower trunk

abnormal rostrocaudal coat patterning ( J:181963 )

• at P12, mice exhibit normal agouti fur in the upper trunk but white fur in the lower trunk, unlike control mice

behavior/neurological

impaired limb coordination ( J:181963 )

• mice drag their hind legs in a kneeling posture

hindlimb paralysis ( J:181963 )

• hind legs are paralyzed

• however, forelimbs appear normal

paresis ( J:181963 )

• at P2 and P12, mice exhibit paresis of only the hind legs

nervous system

decreased sensory neuron number ( J:181963 )

• at P2, lumbar DRG shows loss of large-diameter DRG sensory neurons

small dorsal root ganglion ( J:181963 )

• at E18.5, lumbar dorsal root ganglion (DRG) shows normal gray/white matter distributions but smaller cross-sectional areas

growth/size/body

kidney cyst ( J:181963 )

• at P12, many large renal cysts are observed, unlike in control kidneys

• small cysts first emerge at P4; no cysts are observed at P2

kidney cortex cyst ( J:181963 )

• proximal tubular cysts emerge at P4

• no cysts associated with connecting tubules, distal convoluted tubules, or collecting ducts are observed

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2.1Grc Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2.1Grc mutation (0 available); any Ppp3r1 mutation (31 available)
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

renal interstitial fibrosis ( J:89217 )

abnormal kidney pelvis morphology ( J:89217 )

• abnormal development of the renal pelvis due to impaired mesenchymal cell proliferation in the developing urinary tract

dilated kidney calyx ( J:89217 )

hydronephrosis ( J:89217 )

• first evident at 5 days of age and becoming more severe by 12 days of age

• in most cases the obstruction occurred at the level of the ureteropelvic junction

• associated with severe parenchymal atrophy, massive nephron loss, interstitial fibrosis, severe dilation of the tubular and pelvicaliceal space

• putatively due to abnormal the pyeloureteral peristalsis that resulted from the kidney and ureter developmental defects

kidney atrophy ( J:89217 )

• severe parenchymal atrophy and massive nephron loss

dilated renal tubule ( J:89217 )

abnormal ureter development ( J:89217 )

• abnormal development of the ureter due to impaired mesenchymal cell proliferation in the developing urinary tract

ureteropelvic junction obstruction ( J:89217 )

• in most cases the obstruction occurred at the level of the ureteropelvic junction

kidney failure ( J:89217 )

• renal failure following progressive renal obstruction

homeostasis/metabolism

increased blood urea nitrogen level ( J:89217 )

• observed at 12 days of age and indicative of impaired renal function

cellular

decreased cell proliferation ( J:89217 )

• decreased proliferation of mesenchymal cells along the urinary tract

muscle

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

Allelic Composition	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp3r1^tm2Grc mutation (1 available); any Ppp3r1 mutation (31 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

renal interstitial fibrosis ( J:89217 )

abnormal kidney pelvis morphology ( J:89217 )

• abnormal development of the renal pelvis due to impaired mesenchymal cell proliferation in the developing urinary tract, resulting in abnormal pyeloureteral peristalsis

dilated kidney calyx ( J:89217 )

hydronephrosis ( J:89217 )

• first evident at 5 days of age and becoming more severe by 12 days of age

• in most cases the obstruction occurred at the level of the ureteropelvic junction

• associated with severe parenchymal atrophy, massive nephron loss, interstitial fibrosis, severe dilation of the tubular and pelvicaliceal space

• putatively due to abnormal the pyeloureteral peristalsis that resulted from the kidney and ureter developmental defects

kidney atrophy ( J:89217 )

• severe parenchymal atrophy and massive nephron loss

dilated renal tubule ( J:89217 )

abnormal ureter development ( J:89217 )

• abnormal development of the ureter due to impaired mesenchymal cell proliferation in the developing urinary tract, resulting in abnormal pyeloureteral peristalsis

ureteropelvic junction obstruction ( J:89217 )

• in most cases the obstruction occurred at the level of the ureteropelvic junction

kidney failure ( J:89217 )

• renal failure following progressive renal obstruction

homeostasis/metabolism

increased blood urea nitrogen level ( J:89217 )

• observed at 12 days of age and indicative of impaired renal function

cellular

decreased cell proliferation ( J:89217 )

• decreased proliferation of mesenchymal cells along the urinary tract

muscle

impaired ureteric peristalsis ( J:89217 )

• abnormal pyeloureteral peristalsis resulting from kidney and ureter developmental defects

Allelic Composition	Men1^tm1.2Ctre/Men1^tm1.2Ctre Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Men1^tm1.2Ctre mutation (1 available); any Men1 mutation (40 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:127545 )

• pups die at birth (14 of 36) or during the first postnatal day (P1)

craniofacial

short soft palate ( J:127545 )

• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue

cleft secondary palate ( J:127545 )

• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

skeleton

abnormal rib morphology ( J:127545 )

• rib defects involve different ribs among mutant mice and include fusions and bifurcations in the distal regions of the ribs unilaterally or bilaterally

digestive/alimentary system

short soft palate ( J:127545 )

• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue

cleft secondary palate ( J:127545 )

• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

growth/size/body

short soft palate ( J:127545 )

• some newborns show a shortened palate in relation to the epiglottis, trachea and tongue

cleft secondary palate ( J:127545 )

• 2 of 36 newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Fgfr2^tm3.1Lni/Fgfr2^tm3.1Lni Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * FVB/N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1Jpa mutation (0 available); any Fgfr1 mutation (223 available)
Fgfr2^tm3.1Lni mutation (0 available); any Fgfr2 mutation (90 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

abnormal metanephric mesenchyme morphology ( J:167305 )

• at E10.5, mice exhibit a severe reduction in the size of condensed metanephric mesenchyme relative to controls, as shown by H&E staining

• still images of 3D reconstructions show a 70% reduction in metanephric mesenchyme volume at E10.5

• at E11.5, the metanephric mesenchyme remains small and less condensed, unlike in controls

increased metanephric mesenchyme apoptosis ( J:167305 )

• by E12.5, high levels of apoptosis are noted throughout the remnant metanephric mesenchyme, as revealed by TUNEL staining

• however, no obvious differences in mesenchymal proliferation or apoptosis are noted at E10.5 and E11.5 relative to controls

absent kidney ( J:167305 )

• no apparent kidney tissues are observed at E13.5 and E18.5

impaired branching involved in ureteric bud morphogenesis ( J:167305 )

• at E11.5, ureteric buds remain unbranched, unlike in controls

abnormal ureteric bud invasion ( J:167305 )

• at E11.5, none of the ureteric buds elongate into the metanephric mesenchyme, unlike in controls

ectopic ureteric bud ( J:167305 )

• a subset of mice develop an anteriorly displaced secondary ureteric bud, unlike in controls

small ureteric bud ( J:167305 )

• at E11.5, ureteric buds are small and unbranched, unlike in controls

cellular

increased metanephric mesenchyme apoptosis ( J:167305 )

• by E12.5, high levels of apoptosis are noted throughout the remnant metanephric mesenchyme, as revealed by TUNEL staining

• however, no obvious differences in mesenchymal proliferation or apoptosis are noted at E10.5 and E11.5 relative to controls

embryo

increased metanephric mesenchyme apoptosis ( J:167305 )

• by E12.5, high levels of apoptosis are noted throughout the remnant metanephric mesenchyme, as revealed by TUNEL staining

• however, no obvious differences in mesenchymal proliferation or apoptosis are noted at E10.5 and E11.5 relative to controls

Allelic Composition	Gja1^tm1Gfi/Gja1^tm1.1Gfi Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129/Sv * C57BL/6 * FVB/N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gja1^tm1.1Gfi mutation (0 available); any Gja1 mutation (60 available)
Gja1^tm1Gfi mutation (0 available); any Gja1 mutation (60 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:108525 )

• partial postnatal lethality, as only 4.6% of pups at 2 weeks of age are mutants

growth/size/body

decreased birth body size ( J:108525 )

• smaller at birth

decreased birth weight ( J:108525 )

• neonatal weights are decreased by 11.6%

cardiovascular system

abnormal coronary artery morphology ( J:108525 )

• 3 of 5 neonates exhibit a variety of coronary abnormalities

abnormal trabecula carnea morphology ( J:108525 )

• the right ventricle appears more heavily trabeculated at E15.5

abnormal heart development ( J:108525 )

• exhibit a late phase of cellular delamination from the dorsal and lateral neural tube, a markedly increased abundance of neuroepithelium-derived cells outside of the neural tube and an excess of such cells infiltrating the heart and infundibulum

abnormal heart right ventricle outflow tract morphology ( J:108525 )

• neonates exhibit grossly misshapen right ventricle outflow tract (RVOT), with large infundibular bulges seen bilaterally flanking the outflow tract

• RVOT is first observed at E15.5, with the right ventricle appearing more heavily trabeculated

• outflow tracts appear dilated and more densly trabeculated

• regions of the infundibular wall showing thinning

decreased heart right ventricle wall thickness ( J:108525 )

• the right ventricular wall is slightly thinner

nervous system

abnormal nervous system development ( J:108525 )

muscle

abnormal trabecula carnea morphology ( J:108525 )

• the right ventricle appears more heavily trabeculated at E15.5

Allelic Composition	Myocd^tm1Msp/Myocd^tm1Msp Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myocd^tm1Msp mutation (0 available); any Myocd mutation (55 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:131288 )

• die before P3

cardiovascular system

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

cellular

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patent ductus arteriosus		DOID:13832	OMIM:607411	J:131288

Allelic Composition	Ctnnd1^tm1Lfr/Ctnnd1^tm1Lfr Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnd1^tm1Lfr mutation (1 available); any Ctnnd1 mutation (122 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:171425 )

• mutant pups are born at near Mendelian ratios but die within 24 hours of birth

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:171425 )

• at P0, overtly cystic proximal tubules exhibit abnormal cilium shape and length relative to controls

• however, cilia of non-cystic proximal tubules appear grossly normal in structure and number

increased kidney apoptosis ( J:171425 )

• at E17.5, a 2-fold increase in apoptosis is observed in derivatives of metanephric mesenchyme, i.e. condensed mesenchyme, renal vesicles and comma and s-shaped bodies relative to controls

increased kidney cell proliferation ( J:171425 )

• despite overall renal hypoplasia, a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining

kidney cortex cyst ( J:171425 )

• at P0, all mice exhibit cystic structures of proximal tubule origin, with nuclear crowding and areas of multi-layered epithelium

• no cysts are observed in the ureteric bud and collecting ducts

abnormal podocyte morphology ( J:171425 )

• at the capillary loop stage, podocytes often fail to completely surround the developing vasculature

• in some cases, podocytes form multiple rosettes rather than a single oval sphere

• however, slit-diaphragms are formed despite reduced R-cadherin levels

abnormal renal glomerulus morphology ( J:171425 )

• at P0, many, but not all, glomeruli appear smaller and disorganized with loss of podocyte and endothelial patterning, unlike in controls

decreased renal glomerulus number ( J:171425 )

• at P0, mice exhibit normal glomerular density with a mild decrease in total glomerular number relative to controls

abnormal kidney development ( J:171425 )

• at E17.5, mice exhibit cyst formation within proximal tubules, decreased cadherin levels, and abnormal morphologies of early tubule structures and developing glomeruli

• however, no differences in the % of fusions of the ureteric bud to mesenchymally derived epithelia are observed

abnormal metanephros morphology ( J:171425 )

• at E17.5, a significant number of abnormal comma-shaped and s-shaped (10%) structures are observed, unlike in controls

small kidney ( J:171425 )

• mice produce urine but exhibit significantly smaller kidneys at E17.5 and P0

renal hypoplasia ( J:171425 )

• mice exhibit hypoplastic cystic kidneys at P0

dilated distal convoluted tubule ( J:171425 )

• at E17.5, mice exhibit mild luminal widening in distal tubules

• in contrast, thick ascending limb tubules, ureteric bud epithelia, and collecting ducts are not dilated

abnormal proximal convoluted tubule morphology ( J:171425 )

• at E17.5, proximal tubules display cysts, an increased diameter, and decreased total length

• at E17.5, proximal tubules exhibit impaired cytoskeletal organization, with increased apical actin filaments in non-cystic epithelia and abundant actin bundles in cystic epithelia, unlike in control tubules

• a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining

• however, gross apical-basolateral polarity is intact despite low cadherin levels

dilated proximal convoluted tubule ( J:171425 )

• at E17.5, even tubules that are not overtly cystic have increased diameters

• dilated tubules are noted as early as E15.5

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:171425 )

• at P0, overtly cystic proximal tubules exhibit abnormal cilium shape and length relative to controls

• however, cilia of non-cystic proximal tubules appear grossly normal in structure and number

abnormal cell adhesion ( J:171425 )

• at P0, luminal cells are frequently observed within proximal tubule cysts, suggesting a cell adhesion defect

increased kidney apoptosis ( J:171425 )

• at E17.5, a 2-fold increase in apoptosis is observed in derivatives of metanephric mesenchyme, i.e. condensed mesenchyme, renal vesicles and comma and s-shaped bodies relative to controls

increased kidney cell proliferation ( J:171425 )

• despite overall renal hypoplasia, a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining

growth/size/body

kidney cortex cyst ( J:171425 )

• at P0, all mice exhibit cystic structures of proximal tubule origin, with nuclear crowding and areas of multi-layered epithelium

• no cysts are observed in the ureteric bud and collecting ducts

Allelic Composition	Sp4^tm2Krc/Sp4^tm2Krc Tg(Pax3-cre)1Joe/0
Genetic Background	involves: C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp4^tm2Krc mutation (0 available); any Sp4 mutation (35 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

cardiovascular system

abnormal impulse conducting system morphology ( J:107057 )

• in mutants, there is a marked disorganization of a marker for cardiac Purkinje cells Cx40 in the peripheral conduction system compared to wild-type and ventricular-specific null animals

• mice have abnormalities in the innervation to the AVN region

abnormal impulse conducting system conduction ( J:107057 )

• atrial paced 2:1 atrioventricular block rates are higher in nulls compared to wild-type

• atrial effective refractory periods are lengthened in null animals

muscle

abnormal impulse conducting system morphology ( J:107057 )

• in mutants, there is a marked disorganization of a marker for cardiac Purkinje cells Cx40 in the peripheral conduction system compared to wild-type and ventricular-specific null animals

• mice have abnormalities in the innervation to the AVN region

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